A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

Abstract

Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Here to seek the etiology of a ten-year-old boy incidentally found with nephrolithiasis, next generation sequencing (NGS) including a panel with 248 genes involved in hereditary kidney diseases was performed for the boy and identified two mutations of KCNJ1, c.89G > A (p.C30Y) and c.65G > T (p.R22M), and the later was a novel missense mutation originated from his father. The child was confirmed with type II Bartter syndrome (BS) caused by KCNJ1 mutations. Our study suggests that BS may be difficult to get diagnosed at an early stage based on clinical manifestations or biochemical laboratory tests, and NGS is an efficient way to determine the etiology and provide further treatment and guide fertility counseling for the affected family.

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“…Similarly, a previous study declared that GFAP was associated with poor outcomes in BC patients ( 54 ). KCNJ1 participated in potassium balance, and its mutation was able to trigger Bartter syndrome ( 55 ). In clear cell renal cell carcinoma, the results indicated that this gene was highly expressed in normal tissue samples and produced an inhibitory role in ccRCC progression ( 56 ), while there was a lack of reports about its role in BC.…”