Renal tubular acidosis
Identifieur interne : 000E88 ( Istex/Corpus ); précédent : 000E87; suivant : 000E89Renal tubular acidosis
Auteurs : Ákos Z. Györy ; K. David G. EdwardsSource :
- The American Journal of Medicine [ 0002-9343 ] ; 1968.
English descriptors
- Teeft :
- Acid, Acid loading, Acidifying defect, Acidosis, Acidotic, Alkaline urine, American journal, Ammonia, Ammonia excretion, Ammonium, Ammonium chloride, Arterialized capillary blood, Asymptomatic, Bicarbonate, Bicarbonate loading, Biochemical tests, Blood pressure, Calcification, Calculus, Citrate, Citrate excretion, Clin, Creatinine, Defect, Distal nephron, Duct, Duct cells, Edwards, Excretion, Family members, Female members, Filtration, Further details, Genetic defect, Glomerular, Glomerular filtration rate, Inorganic phosphate, Intracellular acidosis, July, Kanematsu memorial institute, Kidney, Kidney stones, Late onset, Medullary, Medullary nephrocalcinosis, Medullary sponge kidney, Minimum urine, More acidotic, Nephrocalcinosis, Nephron, Normal control subjects, Normal group, Normal limits, Normal range, Normal subjects, Normal volunteer subjects, Osmolality, Painless hematuria, Phenolsulfonphthalein, Phenolsulfonphthalein excretion, Phosphate, Phosphate excretion, Phosphorus, Primary defect, Proximal, Proximal tubules, Reabsorption, Recurrent nephrolithiasis, Renal, Renal calculi, Renal function, Renal function test, Renal function testing, Roentgenogram, Serum sodium, Sodium bicarbonate, Subgroup, Surface area, Sydney hospital, Symptomatic, Systemic, Systemic acidosis, Titratable, Titratable acid, Titratable acid excretion, Total acid, Tubular, Tubular acidosis, Tubular function, Tubular phosphate reabsorption, Tubular urine, Uric, Urinary, Urinary ammonia, Urinary ammonia excretion, Urinary ammonium excretion, Urinary citrate, Urinary citrate excretion, Urinary phosphate excretion, Urinary tract infection, Urine, Whole blood base.
Abstract
Abstract: Renal tubular acidosis with a dominant autosomal inheritance pattern was found in ten of thirteen members of a family investigated by the one day renal function test of Edwards et al. [1]. A significantly lower minimum urine pH was attained in affected members who were “asymptomatic” than in the four members who were “symptomatic” (because of renal stones and/or nephrocalcinosis and infection). The mean pH values were 6.11 and 6.64, respectively (p < 0.05), representing maximum urinary hydrogen ion concentrations one-twentieth and one-sixtieth of normal. The “asymptomatic” group also had a significantly increased phosphate excretion (25.6 μM per minute per 1.73 M2.; p < 0.05) and this caused an increase in titratable acid excretion giving a measure of protection against systemic acidosis in addition to that due to a lower urine pH. A defect in proximal tubular function was also detected by the fifteen minute phenolsulfonphthalein excretion test, the mean values being 86 per cent in the “asymptomatic” group and 67 per cent of the expected value (derived from the glomerular filtration rate) in the “symptomatic” group (p < 0.05; normal control subjects 93 per cent). These findings were considered to represent variable expression of the primary genetic defect, which might well lead to the differences observed clinically. Hyperuricemia and a decreased clearance of urate were noted in some members, particularly in the “symptomatic” group. Urinary citrate excretion was greatly reduced in all members and was found to be inversely related to the degree of systemic acidosis rather than to the urine pH under both acid and alkali loading. A hypothesis has been put forward regarding the extramitochondrial role of circulating citrate (derived mainly from the tubular lumen) in energy production by tubular cells, especially the collecting duct cells which are poor in mitochondria and yet capable of producing maximum urinary acidification.
Url:
DOI: 10.1016/0002-9343(68)90006-5
Links to Exploration step
ISTEX:AE28FAC641EABCC3C8F17DE892BAE4700F89929ELe document en format XML
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Györy</name><affiliation><mods:affiliation>Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Edwards, K David G" sort="Edwards, K David G" uniqKey="Edwards K" first="K. David G." last="Edwards">K. David G. Edwards</name><affiliation><mods:affiliation>Sydney, Australia</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">The American Journal of Medicine</title><title level="j" type="abbrev">AJM</title><idno type="ISSN">0002-9343</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1968">1968</date><biblScope unit="volume">45</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="43">43</biblScope><biblScope unit="page" to="62">62</biblScope></imprint><idno type="ISSN">0002-9343</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0002-9343</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Acid</term><term>Acid loading</term><term>Acidifying defect</term><term>Acidosis</term><term>Acidotic</term><term>Alkaline urine</term><term>American journal</term><term>Ammonia</term><term>Ammonia excretion</term><term>Ammonium</term><term>Ammonium chloride</term><term>Arterialized capillary blood</term><term>Asymptomatic</term><term>Bicarbonate</term><term>Bicarbonate loading</term><term>Biochemical tests</term><term>Blood pressure</term><term>Calcification</term><term>Calculus</term><term>Citrate</term><term>Citrate excretion</term><term>Clin</term><term>Creatinine</term><term>Defect</term><term>Distal nephron</term><term>Duct</term><term>Duct cells</term><term>Edwards</term><term>Excretion</term><term>Family members</term><term>Female members</term><term>Filtration</term><term>Further details</term><term>Genetic defect</term><term>Glomerular</term><term>Glomerular filtration rate</term><term>Inorganic phosphate</term><term>Intracellular acidosis</term><term>July</term><term>Kanematsu memorial institute</term><term>Kidney</term><term>Kidney stones</term><term>Late onset</term><term>Medullary</term><term>Medullary nephrocalcinosis</term><term>Medullary sponge kidney</term><term>Minimum urine</term><term>More acidotic</term><term>Nephrocalcinosis</term><term>Nephron</term><term>Normal control subjects</term><term>Normal group</term><term>Normal limits</term><term>Normal range</term><term>Normal subjects</term><term>Normal volunteer subjects</term><term>Osmolality</term><term>Painless hematuria</term><term>Phenolsulfonphthalein</term><term>Phenolsulfonphthalein excretion</term><term>Phosphate</term><term>Phosphate excretion</term><term>Phosphorus</term><term>Primary defect</term><term>Proximal</term><term>Proximal tubules</term><term>Reabsorption</term><term>Recurrent nephrolithiasis</term><term>Renal</term><term>Renal calculi</term><term>Renal function</term><term>Renal function test</term><term>Renal function testing</term><term>Roentgenogram</term><term>Serum sodium</term><term>Sodium bicarbonate</term><term>Subgroup</term><term>Surface area</term><term>Sydney hospital</term><term>Symptomatic</term><term>Systemic</term><term>Systemic acidosis</term><term>Titratable</term><term>Titratable acid</term><term>Titratable acid excretion</term><term>Total acid</term><term>Tubular</term><term>Tubular acidosis</term><term>Tubular function</term><term>Tubular phosphate reabsorption</term><term>Tubular urine</term><term>Uric</term><term>Urinary</term><term>Urinary ammonia</term><term>Urinary ammonia excretion</term><term>Urinary ammonium excretion</term><term>Urinary citrate</term><term>Urinary citrate excretion</term><term>Urinary phosphate excretion</term><term>Urinary tract infection</term><term>Urine</term><term>Whole blood base</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: Renal tubular acidosis with a dominant autosomal inheritance pattern was found in ten of thirteen members of a family investigated by the one day renal function test of Edwards et al. [1]. A significantly lower minimum urine pH was attained in affected members who were “asymptomatic” than in the four members who were “symptomatic” (because of renal stones and/or nephrocalcinosis and infection). The mean pH values were 6.11 and 6.64, respectively (p < 0.05), representing maximum urinary hydrogen ion concentrations one-twentieth and one-sixtieth of normal. The “asymptomatic” group also had a significantly increased phosphate excretion (25.6 μM per minute per 1.73 M2.; p < 0.05) and this caused an increase in titratable acid excretion giving a measure of protection against systemic acidosis in addition to that due to a lower urine pH. A defect in proximal tubular function was also detected by the fifteen minute phenolsulfonphthalein excretion test, the mean values being 86 per cent in the “asymptomatic” group and 67 per cent of the expected value (derived from the glomerular filtration rate) in the “symptomatic” group (p < 0.05; normal control subjects 93 per cent). These findings were considered to represent variable expression of the primary genetic defect, which might well lead to the differences observed clinically. Hyperuricemia and a decreased clearance of urate were noted in some members, particularly in the “symptomatic” group. Urinary citrate excretion was greatly reduced in all members and was found to be inversely related to the degree of systemic acidosis rather than to the urine pH under both acid and alkali loading. A hypothesis has been put forward regarding the extramitochondrial role of circulating citrate (derived mainly from the tubular lumen) in energy production by tubular cells, especially the collecting duct cells which are poor in mitochondria and yet capable of producing maximum urinary acidification.</div></front></TEI><istex><corpusName>elsevier</corpusName><keywords><teeft><json:string>acidosis</json:string><json:string>renal</json:string><json:string>citrate</json:string><json:string>excretion</json:string><json:string>urine</json:string><json:string>asymptomatic</json:string><json:string>ammonia</json:string><json:string>nephrocalcinosis</json:string><json:string>medullary</json:string><json:string>titratable</json:string><json:string>filtration</json:string><json:string>calculus</json:string><json:string>creatinine</json:string><json:string>urinary</json:string><json:string>phenolsulfonphthalein</json:string><json:string>normal group</json:string><json:string>medullary nephrocalcinosis</json:string><json:string>bicarbonate</json:string><json:string>glomerular filtration rate</json:string><json:string>systemic acidosis</json:string><json:string>normal subjects</json:string><json:string>subgroup</json:string><json:string>tubular acidosis</json:string><json:string>osmolality</json:string><json:string>july</json:string><json:string>acidotic</json:string><json:string>titratable acid</json:string><json:string>roentgenogram</json:string><json:string>citrate excretion</json:string><json:string>genetic defect</json:string><json:string>uric</json:string><json:string>minimum urine</json:string><json:string>defect</json:string><json:string>nephron</json:string><json:string>sydney hospital</json:string><json:string>whole blood base</json:string><json:string>reabsorption</json:string><json:string>clin</json:string><json:string>urinary citrate excretion</json:string><json:string>american journal</json:string><json:string>renal function</json:string><json:string>acid loading</json:string><json:string>ammonium</json:string><json:string>duct</json:string><json:string>phosphorus</json:string><json:string>phosphate excretion</json:string><json:string>kanematsu memorial institute</json:string><json:string>surface area</json:string><json:string>normal range</json:string><json:string>glomerular</json:string><json:string>tubular</json:string><json:string>proximal</json:string><json:string>tubular function</json:string><json:string>recurrent nephrolithiasis</json:string><json:string>ammonia excretion</json:string><json:string>renal function test</json:string><json:string>renal calculi</json:string><json:string>total acid</json:string><json:string>urinary phosphate excretion</json:string><json:string>titratable acid excretion</json:string><json:string>intracellular acidosis</json:string><json:string>urinary tract infection</json:string><json:string>inorganic phosphate</json:string><json:string>normal volunteer subjects</json:string><json:string>calcification</json:string><json:string>edwards</json:string><json:string>acid</json:string><json:string>phosphate</json:string><json:string>urinary ammonia excretion</json:string><json:string>arterialized capillary blood</json:string><json:string>tubular urine</json:string><json:string>biochemical tests</json:string><json:string>urinary ammonia</json:string><json:string>kidney stones</json:string><json:string>medullary sponge kidney</json:string><json:string>painless hematuria</json:string><json:string>more acidotic</json:string><json:string>sodium bicarbonate</json:string><json:string>family members</json:string><json:string>normal control subjects</json:string><json:string>urinary citrate</json:string><json:string>duct cells</json:string><json:string>urinary ammonium excretion</json:string><json:string>ammonium chloride</json:string><json:string>serum sodium</json:string><json:string>normal limits</json:string><json:string>alkaline urine</json:string><json:string>tubular phosphate reabsorption</json:string><json:string>blood pressure</json:string><json:string>female members</json:string><json:string>bicarbonate loading</json:string><json:string>phenolsulfonphthalein excretion</json:string><json:string>acidifying defect</json:string><json:string>late onset</json:string><json:string>primary defect</json:string><json:string>proximal tubules</json:string><json:string>distal nephron</json:string><json:string>further details</json:string><json:string>renal function testing</json:string><json:string>symptomatic</json:string><json:string>systemic</json:string><json:string>kidney</json:string></teeft></keywords><author><json:item><name>Ákos Z. Györy M.B., B.S. (Syd.), M.R.A.C.P.</name><affiliations><json:string>Sydney, Australia</json:string></affiliations></json:item><json:item><name>K.David G. Edwards M.B., B.S., M.D. (Syd.), M.R.A.C.P.</name><affiliations><json:string>Sydney, Australia</json:string></affiliations></json:item></author><articleId><json:string>68900065</json:string></articleId><arkIstex>ark:/67375/6H6-XT9D14PS-G</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>Full-length article</json:string></originalGenre><abstract>Abstract: Renal tubular acidosis with a dominant autosomal inheritance pattern was found in ten of thirteen members of a family investigated by the one day renal function test of Edwards et al. [1]. A significantly lower minimum urine pH was attained in affected members who were “asymptomatic” than in the four members who were “symptomatic” (because of renal stones and/or nephrocalcinosis and infection). The mean pH values were 6.11 and 6.64, respectively (p > 0.05), representing maximum urinary hydrogen ion concentrations one-twentieth and one-sixtieth of normal. The “asymptomatic” group also had a significantly increased phosphate excretion (25.6 μM per minute per 1.73 M2.; p > 0.05) and this caused an increase in titratable acid excretion giving a measure of protection against systemic acidosis in addition to that due to a lower urine pH. A defect in proximal tubular function was also detected by the fifteen minute phenolsulfonphthalein excretion test, the mean values being 86 per cent in the “asymptomatic” group and 67 per cent of the expected value (derived from the glomerular filtration rate) in the “symptomatic” group (p > 0.05; normal control subjects 93 per cent). These findings were considered to represent variable expression of the primary genetic defect, which might well lead to the differences observed clinically. Hyperuricemia and a decreased clearance of urate were noted in some members, particularly in the “symptomatic” group. Urinary citrate excretion was greatly reduced in all members and was found to be inversely related to the degree of systemic acidosis rather than to the urine pH under both acid and alkali loading. A hypothesis has been put forward regarding the extramitochondrial role of circulating citrate (derived mainly from the tubular lumen) in energy production by tubular cells, especially the collecting duct cells which are poor in mitochondria and yet capable of producing maximum urinary acidification.</abstract><qualityIndicators><score>10</score><pdfWordCount>12801</pdfWordCount><pdfCharCount>67908</pdfCharCount><pdfVersion>1.4</pdfVersion><pdfPageCount>20</pdfPageCount><pdfPageSize>540 x 720 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>303</abstractWordCount><abstractCharCount>1966</abstractCharCount><keywordCount>0</keywordCount></qualityIndicators><title>Renal tubular acidosis</title><pmid><json:string>5658868</json:string></pmid><pii><json:string>0002-9343(68)90006-5</json:string></pii><genre><json:string>research-article</json:string></genre><serie><title>Proc. Aust. Ass. Clin. 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[57]</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/6H6-XT9D14PS-G</json:string></ark><categories><wos><json:string>1 - science</json:string><json:string>2 - medicine, general & internal</json:string></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - clinical medicine</json:string><json:string>3 - general & internal medicine</json:string></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - General Medicine</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string></inist></categories><publicationDate>1968</publicationDate><copyrightDate>1968</copyrightDate><doi><json:string>10.1016/0002-9343(68)90006-5</json:string></doi><id>AE28FAC641EABCC3C8F17DE892BAE4700F89929E</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/AE28FAC641EABCC3C8F17DE892BAE4700F89929E/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/AE28FAC641EABCC3C8F17DE892BAE4700F89929E/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/AE28FAC641EABCC3C8F17DE892BAE4700F89929E/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Renal tubular acidosis</title><title level="a" type="sub" xml:lang="en">A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>ELSEVIER</publisher><availability><p>ELSEVIER</p></availability><date>1968</date></publicationStmt><notesStmt><note type="content">Section title: Clinical study</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Renal tubular acidosis</title><title level="a" type="sub" xml:lang="en">A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia</title><author xml:id="author-0000"><persName><forename type="first">Ákos Z.</forename><surname>Györy</surname></persName><roleName type="degree">M.B., B.S. (Syd.), M.R.A.C.P.</roleName><note type="biography">Requests for reprints should be addressed to Ákos Z. Györy, m.b., Kanematsu Memorial Institute, Sydney Hospital, Sydney, Australia.</note><note type="biography">Renal Research Fellow, in receipt of a grant from the Post-Graduate Medical Foundation of the University of Sydney.</note><affiliation>Requests for reprints should be addressed to Ákos Z. Györy, m.b., Kanematsu Memorial Institute, Sydney Hospital, Sydney, Australia.</affiliation><affiliation>Renal Research Fellow, in receipt of a grant from the Post-Graduate Medical Foundation of the University of Sydney.</affiliation><affiliation>Sydney, Australia</affiliation></author><author xml:id="author-0001"><persName><forename type="first">K.David G.</forename><surname>Edwards</surname></persName><roleName type="degree">M.B., B.S., M.D. (Syd.), M.R.A.C.P.</roleName><note type="biography">From the Keith Kirkland Renal Unit, Medical Research Department, Kanematsu Memorial Institute, Sydney Hospital, Sydney, New South Wales, Australia.</note><affiliation>From the Keith Kirkland Renal Unit, Medical Research Department, Kanematsu Memorial Institute, Sydney Hospital, Sydney, New South Wales, Australia.</affiliation><affiliation>Sydney, Australia</affiliation></author><idno type="istex">AE28FAC641EABCC3C8F17DE892BAE4700F89929E</idno><idno type="DOI">10.1016/0002-9343(68)90006-5</idno><idno type="PII">0002-9343(68)90006-5</idno><idno type="ArticleID">68900065</idno></analytic><monogr><title level="j">The American Journal of Medicine</title><title level="j" type="abbrev">AJM</title><idno type="pISSN">0002-9343</idno><idno type="PII">S0002-9343(00)X0260-4</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1968"></date><biblScope unit="volume">45</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="43">43</biblScope><biblScope unit="page" to="62">62</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1968</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Renal tubular acidosis with a dominant autosomal inheritance pattern was found in ten of thirteen members of a family investigated by the one day renal function test of Edwards et al. [1]. A significantly lower minimum urine pH was attained in affected members who were “asymptomatic” than in the four members who were “symptomatic” (because of renal stones and/or nephrocalcinosis and infection). The mean pH values were 6.11 and 6.64, respectively (p < 0.05), representing maximum urinary hydrogen ion concentrations one-twentieth and one-sixtieth of normal. The “asymptomatic” group also had a significantly increased phosphate excretion (25.6 μM per minute per 1.73 M2.; p < 0.05) and this caused an increase in titratable acid excretion giving a measure of protection against systemic acidosis in addition to that due to a lower urine pH. A defect in proximal tubular function was also detected by the fifteen minute phenolsulfonphthalein excretion test, the mean values being 86 per cent in the “asymptomatic” group and 67 per cent of the expected value (derived from the glomerular filtration rate) in the “symptomatic” group (p < 0.05; normal control subjects 93 per cent). These findings were considered to represent variable expression of the primary genetic defect, which might well lead to the differences observed clinically. Hyperuricemia and a decreased clearance of urate were noted in some members, particularly in the “symptomatic” group. Urinary citrate excretion was greatly reduced in all members and was found to be inversely related to the degree of systemic acidosis rather than to the urine pH under both acid and alkali loading. A hypothesis has been put forward regarding the extramitochondrial role of circulating citrate (derived mainly from the tubular lumen) in energy production by tubular cells, especially the collecting duct cells which are poor in mitochondria and yet capable of producing maximum urinary acidification.</p></abstract></profileDesc><revisionDesc><change when="1968">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/AE28FAC641EABCC3C8F17DE892BAE4700F89929E/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier, elements deleted: tail"><istex:xmlDeclaration>version="1.0" encoding="UTF-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 4.5.2//EN//XML" URI="art452.dtd" name="istex:docType"></istex:docType><istex:document><converted-article version="4.5.2" docsubtype="fla" xml:lang="en"><item-info><jid>AJM</jid><aid>68900065</aid><ce:pii>0002-9343(68)90006-5</ce:pii><ce:doi>10.1016/0002-9343(68)90006-5</ce:doi><ce:copyright type="unknown" year="1968"></ce:copyright></item-info><head><ce:dochead><ce:textfn>Clinical study</ce:textfn></ce:dochead><ce:title>Renal tubular acidosis</ce:title><ce:subtitle>A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia</ce:subtitle><ce:author-group><ce:author><ce:given-name>Ákos Z.</ce:given-name><ce:surname>Györy</ce:surname><ce:degrees>M.B., B.S. (Syd.), M.R.A.C.P.</ce:degrees><ce:cross-ref refid="COR1"><ce:sup loc="post">∗</ce:sup></ce:cross-ref><ce:cross-ref refid="FN1"><ce:sup loc="post">1</ce:sup></ce:cross-ref><ce:cross-ref refid="FN2"><ce:sup loc="post">†</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>K.David G.</ce:given-name><ce:surname>Edwards</ce:surname><ce:degrees>M.B., B.S., M.D. (Syd.), M.R.A.C.P.</ce:degrees><ce:cross-ref refid="FN1"><ce:sup loc="post">1</ce:sup></ce:cross-ref></ce:author><ce:affiliation><ce:textfn>Sydney, Australia</ce:textfn></ce:affiliation><ce:correspondence id="COR1"><ce:label>∗</ce:label><ce:text>Requests for reprints should be addressed to Ákos Z. Györy, <ce:small-caps>m.b.</ce:small-caps>, Kanematsu Memorial Institute, Sydney Hospital, Sydney, Australia.</ce:text></ce:correspondence><ce:footnote id="FN2"><ce:label>†</ce:label><ce:note-para>Renal Research Fellow, in receipt of a grant from the Post-Graduate Medical Foundation of the University of Sydney.</ce:note-para></ce:footnote><ce:footnote id="FN1"><ce:label>1</ce:label><ce:note-para>From the Keith Kirkland Renal Unit, Medical Research Department, Kanematsu Memorial Institute, Sydney Hospital, Sydney, New South Wales, Australia.</ce:note-para></ce:footnote></ce:author-group><ce:date-received day="26" month="9" year="1967"></ce:date-received><ce:abstract class="author"><ce:section-title>Abstract</ce:section-title><ce:abstract-sec><ce:simple-para view="all" id="simple-para.0010">Renal tubular acidosis with a dominant autosomal inheritance pattern was found in ten of thirteen members of a family investigated by the one day renal function test of Edwards et al. [1]. A significantly lower minimum urine pH was attained in affected members who were “asymptomatic” than in the four members who were “symptomatic” (because of renal stones and/or nephrocalcinosis and infection). The mean pH values were 6.11 and 6.64, respectively (p < 0.05), representing maximum urinary hydrogen ion concentrations one-twentieth and one-sixtieth of normal. The “asymptomatic” group also had a significantly increased phosphate excretion (25.6 μM per minute per 1.73 M<ce:sup loc="post">2</ce:sup>.; p < 0.05) and this caused an increase in titratable acid excretion giving a measure of protection against systemic acidosis in addition to that due to a lower urine pH. A defect in proximal tubular function was also detected by the fifteen minute phenolsulfonphthalein excretion test, the mean values being 86 per cent in the “asymptomatic” group and 67 per cent of the expected value (derived from the glomerular filtration rate) in the “symptomatic” group (p < 0.05; normal control subjects 93 per cent). These findings were considered to represent variable expression of the primary genetic defect, which might well lead to the differences observed clinically. Hyperuricemia and a decreased clearance of urate were noted in some members, particularly in the “symptomatic” group. Urinary citrate excretion was greatly reduced in all members and was found to be inversely related to the degree of systemic acidosis rather than to the urine pH under both acid and alkali loading. A hypothesis has been put forward regarding the extramitochondrial role of circulating citrate (derived mainly from the tubular lumen) in energy production by tubular cells, especially the collecting duct cells which are poor in mitochondria and yet capable of producing maximum urinary acidification.</ce:simple-para></ce:abstract-sec></ce:abstract></head></converted-article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Renal tubular acidosis</title><subTitle>A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia</subTitle></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Renal tubular acidosis</title><subTitle>A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia</subTitle></titleInfo><name type="personal"><namePart type="given">Ákos Z.</namePart><namePart type="family">Györy</namePart><namePart type="termsOfAddress">M.B., B.S. (Syd.), M.R.A.C.P.</namePart><affiliation>Sydney, Australia</affiliation><description>Requests for reprints should be addressed to Ákos Z. Györy, m.b., Kanematsu Memorial Institute, Sydney Hospital, Sydney, Australia.</description><description>Renal Research Fellow, in receipt of a grant from the Post-Graduate Medical Foundation of the University of Sydney.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K.David G.</namePart><namePart type="family">Edwards</namePart><namePart type="termsOfAddress">M.B., B.S., M.D. (Syd.), M.R.A.C.P.</namePart><affiliation>Sydney, Australia</affiliation><description>From the Keith Kirkland Renal Unit, Medical Research Department, Kanematsu Memorial Institute, Sydney Hospital, Sydney, New South Wales, Australia.</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1968</dateIssued><copyrightDate encoding="w3cdtf">1968</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><abstract lang="en">Abstract: Renal tubular acidosis with a dominant autosomal inheritance pattern was found in ten of thirteen members of a family investigated by the one day renal function test of Edwards et al. [1]. A significantly lower minimum urine pH was attained in affected members who were “asymptomatic” than in the four members who were “symptomatic” (because of renal stones and/or nephrocalcinosis and infection). The mean pH values were 6.11 and 6.64, respectively (p < 0.05), representing maximum urinary hydrogen ion concentrations one-twentieth and one-sixtieth of normal. The “asymptomatic” group also had a significantly increased phosphate excretion (25.6 μM per minute per 1.73 M2.; p < 0.05) and this caused an increase in titratable acid excretion giving a measure of protection against systemic acidosis in addition to that due to a lower urine pH. A defect in proximal tubular function was also detected by the fifteen minute phenolsulfonphthalein excretion test, the mean values being 86 per cent in the “asymptomatic” group and 67 per cent of the expected value (derived from the glomerular filtration rate) in the “symptomatic” group (p < 0.05; normal control subjects 93 per cent). These findings were considered to represent variable expression of the primary genetic defect, which might well lead to the differences observed clinically. Hyperuricemia and a decreased clearance of urate were noted in some members, particularly in the “symptomatic” group. Urinary citrate excretion was greatly reduced in all members and was found to be inversely related to the degree of systemic acidosis rather than to the urine pH under both acid and alkali loading. A hypothesis has been put forward regarding the extramitochondrial role of circulating citrate (derived mainly from the tubular lumen) in energy production by tubular cells, especially the collecting duct cells which are poor in mitochondria and yet capable of producing maximum urinary acidification.</abstract><note type="content">Section title: Clinical study</note><relatedItem type="host"><titleInfo><title>The American Journal of Medicine</title></titleInfo><titleInfo type="abbreviated"><title>AJM</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">196807</dateIssued></originInfo><identifier type="ISSN">0002-9343</identifier><identifier type="PII">S0002-9343(00)X0260-4</identifier><part><date>196807</date><detail type="volume"><number>45</number><caption>vol.</caption></detail><detail type="issue"><number>1</number><caption>no.</caption></detail><extent unit="issue-pages"><start>A45</start><end>A88</end></extent><extent unit="issue-pages"><start>A5</start><end>A44</end></extent><extent unit="issue-pages"><start>1</start><end>164</end></extent><extent unit="pages"><start>43</start><end>62</end></extent></part></relatedItem><identifier type="istex">AE28FAC641EABCC3C8F17DE892BAE4700F89929E</identifier><identifier type="ark">ark:/67375/6H6-XT9D14PS-G</identifier><identifier type="DOI">10.1016/0002-9343(68)90006-5</identifier><identifier type="PII">0002-9343(68)90006-5</identifier><identifier type="ArticleID">68900065</identifier><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-HKKZVM7B-M">elsevier</recordContentSource></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/AE28FAC641EABCC3C8F17DE892BAE4700F89929E/metadata/json</uri></json:item></metadata></istex></record>Pour manipuler ce document sous Unix (Dilib)
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