When Nonspecific Symptoms Conceal Kidney Disease: A Case Report on Recognizing Juvenile Nephronophthisis in Pediatric Practice.

Abstract

Juvenile nephronophthisis (NPHP) is the most common genetic cause of pediatric chronic kidney disease (CKD). Its nonspecific findings such as intermittent fatigue, nausea, or vomiting, often delay diagnosis, especially without extra-renal manifestations. This case study reports a 9-year-old boy with a week of acute-on-chronic vomiting, a year of nausea and fatigue, and new onset polydipsia and nocturnal enuresis. Initial symptomatic treatment failed. Examination revealed short stature (5th percentile), stage 2 hypertension (130/89 mm Hg), anemia (Hb 7.4 g/dL), and elevated serum creatinine (4.89 mg/dL). Renal ultrasound showed corticomedullary cysts, and genetic testing confirmed compound heterozygous NPHP4 mutations. Medical management included fluid and electrolyte optimization, ACE‑inhibitor for BP control, oral sodium bicarbonate for acidosis, ergocalciferol and calcium carbonate for mineral‑bone disorder, recombinant erythropoietin for anemia, and nutrition referral to mitigate complications and sequelae of CKD. Progressive renal insufficiency required chronic hemodialysis, which was maintained until the child underwent a successful renal transplant. Therefore, pediatric primary care providers should suspect NPHP in children with chronic, nonspecific symptoms-particularly when accompanied by CKD signs like delayed growth, hypertension, polyuria, or nocturnal enuresis.