Dunger D B, Brenton D P, Cain A R
Arch Dis Child. 1980 Mar;55(3):221-5. doi: 10.1136/adc.55.3.221.
Two brothers are described with renal tubular acidosis and nerve deafness: the elder also had rickets and hypokalaemia. The parents were unaffected. Studies of urinary acidification and bicarbonate excretion were consistent with a distal tubular abnormality. This report strengthens the view previously proposed in similar cases that nerve deafness and renal tubular acidosis constitute a genetic entity. Examination for nerve deafness is indicated in any child with renal tubular acidosis.
哥哥还患有佝偻病和低钾血症。父母未受影响。对尿液酸化和碳酸氢盐排泄的研究与远端肾小管异常相符。本报告强化了先前在类似病例中提出的观点,即神经性耳聋和肾小管酸中毒构成一种遗传实体。对于任何患有肾小管酸中毒的儿童,均应进行神经性耳聋检查。