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[Nephronophthisis: a pediatric case report].
Mayra Pitón1, Lucas Gregorini2, Carolina Bullor2
1Clínica Pediátrica, Hospital de Niños Dr. Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires, Argentina. maypiton@gmail.com.
Archivos Argentinos De Pediatria
|May 9, 2022
Summary
Nephronophthisis is a genetic kidney disease affecting children, often with liver and eye complications. Early diagnosis and kidney transplant are crucial for managing this rare condition.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Nephronophthisis is an autosomal recessive cystic kidney disease.
- It stems from mutations affecting primary cilia function, leading to kidney disease and extrarenal issues like retinal degeneration and liver fibrosis.
- Clinical presentations are categorized as infantile, juvenile, or adolescent based on end-stage chronic kidney disease onset.
Observation:
- A 13-month-old male presented with polyuria, kidney failure, anemia, and elevated aminotransferases over three months.
- A kidney biopsy revealed chronic tubulointerstitial changes with thickened tubular basement membranes.
- These findings were compatible with infantile nephronophthisis involving the liver.
Findings:
- The case highlights infantile nephronophthisis with hepatic involvement in a young child.
- Diagnosis was confirmed through compatible kidney biopsy results.
- The patient exhibited symptoms including polyuria, renal failure, anemia, and liver enzyme elevation.
Implications:
- This case underscores the importance of early diagnosis of nephronophthisis in pediatric patients.
- It emphasizes the need for considering liver involvement in infantile nephronophthisis.
- Kidney transplantation remains a vital intervention for improving outcomes in advanced stages of the disease.
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