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[Autosomal recessive polycystic kidney disease: case report]
Srpski Arhiv Za Celokupno Lekarstvo
|July 15, 2009
Summary
Autosomal recessive polycystic kidney disease (ARPKD) is a common genetic disorder in children. This case highlights a neonate with severe ARPKD, emphasizing the need for autopsy and genetic testing in lethal congenital kidney anomalies.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Pathology
Background:
- Autosomal recessive polycystic kidney disease (ARPKD) is the most prevalent inherited cystic kidney disease in infants and children.
- The disease presents a wide spectrum of clinical manifestations, from perinatal mortality to milder forms diagnosed later in life.
Observation:
- A female neonate, born at 35-36 weeks gestation, presented with enlarged kidneys and oligohydramnios detected prenatally.
- Postnatally, the infant experienced critical vital functions and was transferred to a pediatric hospital, where she unfortunately passed away despite medical interventions.
- Autopsy revealed findings consistent with ARPKD, including massively enlarged kidneys with cystically dilated collecting ducts, mild lung hypoplasia, and hepatic portal space dilation with bile duct abnormalities.
Findings:
- The autopsy confirmed autosomal recessive polycystic kidney disease as the cause of death.
- Renal parenchyma was largely replaced by cysts, leading to renal failure.
- Respiratory distress due to lung hypoplasia contributed to the fatal outcome.
Implications:
- This case underscores the importance of performing autopsies in cases of congenital kidney anomalies with lethal outcomes.
- Genetic investigation is crucial for accurate diagnosis and understanding the inheritance patterns of ARPKD.
- Early diagnosis and genetic counseling are vital for families affected by ARPKD.
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