Swayamprakasam Anand P, Stover Elizabeth, Norgett Elizabeth, Blake-Palmer Katherine G, Cunningham Michael J, Karet Fiona E
Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, UK.
Int Med Case Rep J. 2010 Dec 22;4:7-11. doi: 10.2147/IMCRJ.S13667. Print 2011.
Autosomal recessive distal renal tubular acidosis is usually a severe disease of childhood, often presenting as failure to thrive in infancy. It is often, but not always, accompanied by sensorineural hearing loss, the clinical severity and age of onset of which may be different from the other clinical features. Mutations in either ATP6V1B1 or ATP6V0A4 are the chief causes of primary distal renal tubular acidosis with or without hearing loss, although the loss is often milder in the latter. We describe a kindred with compound heterozygous alterations in ATP6V0A4, where hearing loss was formally diagnosed late in both siblings such that they missed early opportunities for hearing support. This kindred highlights the importance of routine audiologic assessments of all children with distal renal tubular acidosis, irrespective either of age at diagnosis or of which gene is mutated. In addition, when diagnostic genetic testing is undertaken, both genes should be screened irrespective of current hearing status. A strategy for this is outlined.
常染色体隐性遗传性远端肾小管酸中毒通常是一种严重的儿童疾病，常在婴儿期表现为发育不良。它常伴有感音神经性听力损失，但并非总是如此，其临床严重程度和发病年龄可能与其他临床特征不同。ATP6V1B1或ATP6V0A4的突变是伴或不伴听力损失的原发性远端肾小管酸中毒的主要原因，不过后者的听力损失通常较轻。我们描述了一个家系，其中ATP6V0A4存在复合杂合性改变，两名同胞的听力损失均在较晚时才被正式诊断，以至于他们错过了早期获得听力支持的机会。这个家系凸显了对所有远端肾小管酸中毒患儿进行常规听力评估的重要性，无论诊断时的年龄或哪个基因发生突变。此外，在进行诊断性基因检测时，无论当前听力状况如何，都应筛查这两个基因。本文概述了相关策略。
