Copelovitch Lawrence, Kaplan Bernard S
Division of Nephrology, Department of Pediatrics , The Children's Hospital of Philadelphia , Philadelphia, PA , USA.
NDT Plus. 2010 Oct;3(5):439-42. doi: 10.1093/ndtplus/sfq123. Epub 2010 Jul 12.
We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss. Uncharacteristically, he presented with mild acidosis, hypokalaemia and hypocalciuria as well as unilateral sensorineural hearing loss. Subsequent investigations led to the discovery of both hyperoxaluria and beta2-microglobulinuria, thereby expanding the differential diagnosis to include both primary hyperoxaluria and Dent disease. Two mutations in the ATPV1B1 gene, one of which was novel, confirmed the diagnosis of dRTA. We consider the overlapping features of and diagnostic dilemmas involved in making a diagnosis of dRTA, primary hyperoxaluria and Dent disease in patients with infantile nephrocalcinosis. We highlight the occurrence of hyperoxaluria and low-molecular-weight proteinuria in patients with dRTA and propose that the phenotype of autosomal recessive dRTA with sensorineural hearing loss be broadened to include both hyperoxaluria and increased urinary excretion of beta2-microglobulin.
我们描述了一名7个月大的男性，患有常染色体隐性遗传性远端肾小管酸中毒（dRTA）并伴有感音神经性听力损失的非典型特征。不同寻常的是，他表现为轻度酸中毒、低钾血症、低钙尿症以及单侧感音神经性听力损失。随后的检查发现了高草酸尿症和β2-微球蛋白尿症，从而将鉴别诊断范围扩大到包括原发性高草酸尿症和丹特病。ATPV1B1基因中的两个突变，其中一个是新发现的，证实了dRTA的诊断。我们考虑了婴儿肾钙质沉着症患者在诊断dRTA、原发性高草酸尿症和丹特病时所涉及的重叠特征和诊断困境。我们强调了dRTA患者中高草酸尿症和低分子量蛋白尿的发生，并建议将伴有感音神经性听力损失的常染色体隐性dRTA的表型扩大到包括高草酸尿症和β2-微球蛋白尿排泄增加。
