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.

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{{Explor lien
   |wiki=    Wicri/Psychologie
   |area=    BernheimV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:AE28FAC641EABCC3C8F17DE892BAE4700F89929E
   |texte=   Renal tubular acidosis
}}