Neonatal Onset of Autosomal Recessive Polycystic Kidney Disease Mimicking Bartter Syndrome: A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Autosomal recessive polycystic kidney disease is an uncommon genetic disorder characterized by cystic enlargement of the renal collecting ducts along with varying degrees of congenital hepatic fibrosis. Neonatal presentation can mimic other tubulopathies like Bartter syndrome due to overlapping biochemical abnormalities. We present a case of a late preterm male neonate, born to consanguineous parents, who exhibited lethargy, dehydration, and significant weight loss by day 8 of life. Clinical evaluation and investigations revealed features of salt-wasting tubulopathy with metabolic alkalosis. Imaging showed enlarged, cystic kidneys, and genetic testing confirmed a homozygous mutation in the PKHD1 gene, consistent with ARPKD. Supportive therapy, including fluid and electrolyte correction and indomethacin, led to clinical improvement. This case underlines the importance of considering ARPKD in neonates with electrolyte imbalance and renomegaly and demonstrates the diagnostic utility of early genetic analysis.
Source: Journal of Neonatal Surgery
Authors: Punith MS, Santosh B Kurbet, Mahantesh V Patil, Roopa M Bellad, Vineetha Gautam
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4412757471