What are the Symptoms of Nephronophthisis?
Children with NPHP1 may have a subtle presentation, with progressive polyuria, polydipsia, secondary enuresis, impaired growth, fatigue, and pallor. Anemia is a prominent finding even before significant reduction in kidney function occurs.
Progression to ESKD occurs on average at 13 years of age in children with juvenile Nephronophthisis, at age 1 year in infantile Nephronophthisis, and at age 19 years in adolescent Nephronophthisis.
Hematuria, proteinuria, urinary tract infection, and hypertension are uncommon.
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