Abstract

We describe the case of a 5-year-old who came to our attention for a growth delay. Among the investigations planned because of the child’s short stature, we performed an abdominal ultrasound showing normal-sized kidneys with signs of cortico-medullar de-differentiation, diffuse medullary hyperechogenicity with reduction of cortical thickness and cortical-medullary cysts. The ultrasound findings, also confirmed in MRI, led us to suspect a genetically determined cystic nephropathy of the nephronophthisis or medullary cystic disease type. No mutation was identified in NPHP1, HNFb1 and UMOD genes. Interestingly, laboratory investigations revealed a severe metabolic acidosis with normal renal function and hypokalemia. These findings are not characteristics of a nephronophthisis. We therefore also performed molecular analysis for distal tubular acidosis (dRTA) that showed the association of two genetic variants of ATP6V1B1 and SLC4A genes. These “double mutations” have been inherited from the mother, which however does not have the classic dRTA phenotype. These variants do not currently meet the criteria for a conclusive molecular diagnosis of dRTA but represent variants of uncertain clinical significance. However, considering the clinical and laboratory data one can reasonably conclude that the child has a “probable” diagnosis of distal tubular acidosis. The rapid recovery of staturo-ponderal growth after the start of alkalizing treatment supports our diagnostic hypothesis. The association between distal tubular acidosis and renal cysts is well described in the literature. The hypothesis is that chronic hypokalemia may play a possible role in the formation of renal cysts.

Keywords: growth delay, renal cysts, tubular acidosis, ipokalemia