Diffuse renal cystic disease in children: morphologic and genetic correlations

Area of Science:

• Pediatric Nephrology
• Medical Genetics
• Developmental Biology

Background:

• Enlarged, hyperechoic kidneys in infants and fetuses often lead to an initial clinical diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
• Accurate diagnosis is crucial for understanding prognosis and genetic counseling.

Purpose of the Study:

• To analyze the histopathological spectrum of kidney cystic diseases in infants and fetuses.
• To compare histopathological findings with the initial clinical diagnosis of ARPKD.
• To explore the embryological context and role of molecular genetics in diagnosis.

Main Methods:

• Evaluation of nine cases (seven infants, two fetuses) with enlarged, hyperechoic kidneys.
• Comprehensive renal and liver histopathology analysis.
• Review of clinical and family data.
• Discussion of embryological correlations and molecular genetics.

Main Results:

• Histopathology revealed a range of cystic kidney diseases, including ARPKD, glomerulocystic kidney disease, autosomal dominant polycystic kidney disease, and diffuse cystic dysplasia.
• Biliary dysgenesis was observed in eight cases with available liver histopathology.
• Initial clinical diagnosis of ARPKD was not always confirmed by histopathology.

Conclusions:

• The histopathological spectrum of congenital cystic kidney disease is broader than initially suspected.
• Histopathology is essential for accurate diagnosis, differentiating various cystic kidney diseases.
• Understanding these conditions in an embryological context and utilizing molecular genetics aids diagnosis.