Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology

Abstract

AbstractA 5-month-old female infant from a consanguineous Indian Muslim family presented with polyuria, polydipsia, failure to thrive, impaired renal function, and neonatal hepatitis of unknown cause at 1 month of age. Clinical exome testing revealed renal–hepatic–pancreatic dysplasia caused by homozygous c. 1985 + 5G > A pathogenic variations in NPHP3. Our case illustrates delay in confirmatory diagnosis of such rare disorders in our region due to the lack of suspicion and unawareness of the availability of genetic testing even when there are no cost constraints.