An unusual case of familial cystic kidney disease
Identifieur interne : 000327 ( Pmc/Corpus ); précédent : 000326; suivant : 000328An unusual case of familial cystic kidney disease
Auteurs :Source :
- Clinical Kidney Journal [ 2048-8505 ] ; 2014.
Url:
DOI: 10.1093/ckj/sfu075
PubMed: 25878781
PubMed Central: 4379334
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">An unusual case of familial cystic kidney disease</title></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25878781</idno><idno type="pmc">4379334</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4379334</idno><idno type="RBID">PMC:4379334</idno><idno type="doi">10.1093/ckj/sfu075</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000327</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000327</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">An unusual case of familial cystic kidney disease</title></analytic><series><title level="j">Clinical Kidney Journal</title><idno type="ISSN">2048-8505</idno><idno type="eISSN">2048-8513</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Vega, J" uniqKey="Vega J">J Vega</name></author><author><name sortKey="Santamarina, M" uniqKey="Santamarina M">M Santamarina</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Antonopoulos, P" uniqKey="Antonopoulos P">P Antonopoulos</name></author><author><name sortKey="Charalampopoulos, G" uniqKey="Charalampopoulos G">G Charalampopoulos</name></author><author><name sortKey="Constantinidis, F" uniqKey="Constantinidis F">F Constantinidis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sarikaya, B" uniqKey="Sarikaya B">B Sarikaya</name></author><author><name sortKey="Akturk, Y" uniqKey="Akturk Y">Y Akturk</name></author><author><name sortKey="Bekar, U" uniqKey="Bekar U">U Bekar</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Meredith, Wt" uniqKey="Meredith W">WT Meredith</name></author><author><name sortKey="Levine, E" uniqKey="Levine E">E Levine</name></author><author><name sortKey="Ahlstrom, Ng" uniqKey="Ahlstrom N">NG Ahlstrom</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Beveridge, N" uniqKey="Beveridge N">N Beveridge</name></author><author><name sortKey="Allen, L" uniqKey="Allen L">L Allen</name></author><author><name sortKey="Rogers, K" uniqKey="Rogers K">K Rogers</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Haddad, Mc" uniqKey="Haddad M">MC Haddad</name></author><author><name sortKey="Hawary, Mm" uniqKey="Hawary M">MM Hawary</name></author><author><name sortKey="Khoury, Nj" uniqKey="Khoury N">NJ Khoury</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bagheri, Mh" uniqKey="Bagheri M">MH Bagheri</name></author><author><name sortKey="Zare, Z" uniqKey="Zare Z">Z Zare</name></author><author><name sortKey="Sefidbakht, S" uniqKey="Sefidbakht S">S Sefidbakht</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Clin Kidney J</journal-id><journal-id journal-id-type="iso-abbrev">Clin Kidney J</journal-id><journal-id journal-id-type="publisher-id">ckj</journal-id><journal-id journal-id-type="hwp">ndtplus</journal-id><journal-title-group><journal-title>Clinical Kidney Journal</journal-title></journal-title-group><issn pub-type="ppub">2048-8505</issn><issn pub-type="epub">2048-8513</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25878781</article-id><article-id pub-id-type="pmc">4379334</article-id><article-id pub-id-type="doi">10.1093/ckj/sfu075</article-id><article-id pub-id-type="publisher-id">sfu075</article-id><article-categories><subj-group subj-group-type="heading"><subject>Educational Papers</subject><subj-group subj-group-type="heading"><subject>Nephroquiz</subject></subj-group></subj-group></article-categories><title-group><article-title>An unusual case of familial cystic kidney disease</article-title></title-group><contrib-group><contrib contrib-type="editor"><name><surname>Zeier</surname><given-names>M. G.</given-names></name><role>Section Editor</role></contrib></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Gopaluni</surname><given-names>Seerapani</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Gibson</surname><given-names>Matthew</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Mohteshamzadeh</surname><given-names>Mobin</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><aff id="af1"><label>1</label><addr-line>Renal Unit</addr-line>,<institution>Royal Berkshire Hospital</institution>,<addr-line>Reading</addr-line>,<country>UK</country></aff><aff id="af2"><label>2</label><addr-line>Department of Radiology</addr-line>,<institution>Royal Berkshire Hospital</institution>,<addr-line>Reading</addr-line>,<country>UK</country></aff></contrib-group><author-notes><corresp><italic>Correspondence and offprint requests to:</italic> Seerapani Gopaluni; E-mail: <email>pani.gopaluni@yahoo.com</email></corresp></author-notes><pub-date pub-type="ppub"><month>10</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>15</day><month>7</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>7</month><year>2014</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>7</volume><issue>5</issue><fpage>484</fpage><lpage>485</lpage><history><date date-type="received"><day>27</day><month>3</month><year>2014</year></date><date date-type="accepted"><day>24</day><month>6</month><year>2014</year></date></history><permissions><copyright-statement>© The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com.</copyright-statement><copyright-year>2014</copyright-year><license license-type="creative-commons" xlink:href="http://creativecommons.org/licenses/by-nc/4.0/"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (<uri xlink:type="simple" xlink:href="http://creativecommons.org/licenses/by-nc/4.0/">http://creativecommons.org/licenses/by-nc/4.0/</uri>), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com</license-p></license></permissions><self-uri content-type="pdf" xlink:type="simple" xlink:href="sfu075.pdf"></self-uri><kwd-group><kwd>cystic kidney disease</kwd><kwd>autosomal polycystic kidney disease</kwd><kwd>renal lymphangiomatosis</kwd></kwd-group></article-meta></front><body><sec id="s1"><title>Case</title><p>A 46-year-old woman with a prior diagnosis of autosomal dominant polycystic kidney disease (ADPKD) was referred to the nephrology clinic with abdominal fullness. She had been diagnosed with ADPKD by ultrasound 10 years previously at a different renal unit and was subsequently lost to follow-up. Her father was diagnosed with polycystic kidney disease at the age of 74 with a normal kidney function. Her sister was also diagnosed with polycystic kidney disease at a different renal unit following this patient's diagnosis.</p><p>Her past medical history included severe menorrhagia, iron deficiency anaemia, anxiety, bilateral pleural effusions and polycystic ovaries. She was on perindopril for hypertension though her compliance had been variable. She never suffered from haematuria, back pain or cyst infections. Systemic enquiry did not reveal any significant symptoms. She presented to her general practitioner 2 years prior to this presentation with bilateral swelling of the legs that resolved spontaneously after a month.</p><p>On examination she was well. Her blood pressure was 130/92 mmHg. Abdominal examination revealed bilaterally enlarged kidneys. Examination of other systems was unremarkable apart from minimal peripheral oedema. Urine dipstick revealed +protein and no blood. Renal function was normal with a creatinine of 50 µmol/L. She had a normal MRA and MRI of the head which had been requested to rule out berry aneurysms, as there was a family history of death due to ‘stroke’.</p><p>A repeat ultrasound scan of the abdomen showed bilateral polycystic kidneys. There was a small amount of free fluid within the pelvis and as part of the investigation of this a computed tomography (CT) of the abdomen and pelvis was requested. This showed (<xref ref-type="fig" rid="SFU075F1">Figures 1</xref> and <xref ref-type="fig" rid="SFU075F2">2</xref>) bilateral perinephric fluid collections and a trace of free fluid. The other organs appeared normal. There was no lymphadenopathy.
<fig id="SFU075F1" position="float"><label>Fig. 1.</label><caption><p>Coronal CT showing perinephric fluid (long arrow) surrounding renal cortex (medium arrow) and parapelvic fluid (short arrow).</p></caption><graphic xlink:href="sfu07501"></graphic></fig><fig id="SFU075F2" position="float"><label>Fig. 2.</label><caption><p>Axial CT showing perinephric fluid (long arrow) surrounding renal cortex (medium arrow) and parapelvic fluid (short arrow).</p></caption><graphic xlink:href="sfu07502"></graphic></fig></p></sec><sec id="s2"><title>Question</title><p>What is the condition causing cystic appearance of the kidneys on the ultrasound and CT?</p></sec><sec id="s3"><title>Answer</title><p>The appearances on CT were typical for renal lymphangiomatosis rather than ADPKD.</p></sec><sec sec-type="discussion" id="s4"><title>Discussion</title><p>Renal lymphangiomatosis is also referred to as renal lymphangioma, peripelvic lymphangiectasia, renal peripelvic multicystic lymphangiectasia and hygroma renale.</p><p>It is a rare disease characterized by lymphatic vessel proliferation causing cystic masses in the renal parenchyma, renal sinuses or perinephric spaces [<xref rid="SFU075C1" ref-type="bibr">1</xref>]. It can be congenital or acquired and is caused by malformation of renal lymphatic drainage to retroperitoneal lymph ducts. It can affect the members of the same family supporting the familial nature of this disease [<xref rid="SFU075C2" ref-type="bibr">2</xref>].</p><p>The patients may be completely asymptomatic and diagnosed incidentally. Flank pain [<xref rid="SFU075C1" ref-type="bibr">1</xref>, <xref rid="SFU075C3" ref-type="bibr">3</xref>], abdominal distension, ascites, haematuria, fatigue, weight loss, hypertension and polycythaemia have been described. It can be a part of the presentation with generalized lymphangiomatosis. Pregnancy is thought to exacerbate the condition with development of ascites and perinephric haemorrhage [<xref rid="SFU075C4" ref-type="bibr">4</xref>].</p><p>It can sometimes take an unusually long time before a diagnosis is established. A patient presented with lymphoedema in childhood and was treated intermittently for related symptoms before a diagnosis was achieved 36 years later [<xref rid="SFU075C5" ref-type="bibr">5</xref>].</p><p>The condition can be very difficult to differentiate clinically, radiologically and surgically from ADPKD. Patients usually present with normal kidney function and electrolytes. Ultrasound may be reported as ADPKD because of the multiple cysts in both kidneys. However, there may be subtle differences in the appearances as in ADPKD the cysts are parenchymal, whereas those with lymphangiomatosis are parapelvic with relatively normal renal parenchyma.</p><p>Abdominal CT may demonstrate bilateral, multilocular, fluid-filled cystic masses with low attenuation in the perirenal and peripelvic region. The perinephric spaces consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. Fluid may collect in one or more of these compartments and this can be readily demonstrated by cross-sectional imaging, particularly CT [<xref rid="SFU075C6" ref-type="bibr">6</xref>]. The cysts do not show contrast enhancement.</p><p>MRI demonstrates bilaterally enlarged kidneys with multiple T2 hyperintense and T1 hypointense, non-enhancing cysts in both perirenal spaces and the peripelvic areas [<xref rid="SFU075C7" ref-type="bibr">7</xref>]. MRI can also demonstrate the extent of the disease, including retroperitoneal lesions.</p><p>Lymphoscintigraphy can provide direct evidence of the abnormal lymphatic flows associated with lymphangiomatosis [<xref rid="SFU075C5" ref-type="bibr">5</xref>].</p><p>Aspiration of the cysts, perinephric fluid or ascites may show sporadic cells, small amounts of fat globules, protein and high renin levels distinguishing it from normal lymph.</p><p>The ultrasound appearances can sometimes be mistaken for hydronephrosis [<xref rid="SFU075C3" ref-type="bibr">3</xref>] due to the position of the cysts in the renal sinus. Other differential diagnoses include perinephric abscess, perirenal urine collection, subcapsular and perirenal haematoma, pancreatic pararenal fluid collections and transudate fluid associated with nephropathies [<xref rid="SFU075C6" ref-type="bibr">6</xref>].</p><p>Asymptomatic patients do not need treatment. When the pressure effects of enlarged kidneys give rise to significant symptoms, percutaneous drainage may be carried out. Percutaneous drainage and repeated sclerotherapy has been reported to be a safe, minimally invasive and effective technique for treating this condition in comparison to surgical techniques. Exacerbations during pregnancy were successfully treated with repeated percutaneous drainage. In severe cases nephrectomy may be needed.</p><p>This is a rare condition that can be familial and can simulate ADPKD radiologically. Nephrologists should be aware of the other causes of polycystic kidneys and avoid unnecessary treatments and investigations.</p></sec><sec id="s5"><title>Conflict of interest statement</title><p>This manuscript has not been published or submitted anywhere else.</p></sec></body><back><ref-list><title>References</title><ref id="SFU075C1"><label>1</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Vega</surname><given-names>J</given-names></name><name><surname>Santamarina</surname><given-names>M</given-names></name></person-group><article-title>Unilateral renal limphangiectasia: report of one case</article-title><source>Rev Med Chil</source><year>2012</year><volume>140</volume><fpage>1312</fpage><lpage>1325</lpage><comment><ext-link ext-link-type="uri" xlink:href="http://dx.doi.org/10.4067/S0034-98872012001000011">doi:10.4067/S0034-98872012001000011</ext-link></comment><pub-id 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