SPECTRUM OF PEDIATRIC DEVELOPMENTAL AND GENETIC RENAL LESIONS AND ASSOCIATED CONGENITAL MALFORMATIONS—AN AUTOPSY STUDY FROM NORTH INDIA

Abstract

Pediatric developmental and genetic renal lesions are a known cause of mortality in the perinatal/neonatal period. These lesions are associated with a wide range of extrarenal congenital malformations that influence the outcome of the patients. In this autopsy study, we have analyzed the spectrum of pediatric developmental and genetic renal lesions and their associated congenital malformations. A total of 4,099 autopsies (20 weeks of gestation to 1 year of life) were reviewed, of which 158 cases (3.85%) of pediatric developmental (143 cases) and genetic renal lesions (15 cases) were found. Autosomal recessive polycystic kidney disease was the commonest genetic lesion. Primitive ducts with cuffing of immature mesenchyme—the sine qua non of renal dysplasia—was found in all cases of dysplasia. Associated congenital malformations were seen in all cases and thus a thorough search for them is mandatory. Ductal plate malformation was found in all cases of autosomal recessive polycystic kidney disease and in 1 case of bilateral multicystic dysplasia.

Keywords:

• autosomal recessive polycystic kidney disease
• congenital hydronephrosis
• hereditary renal adysplasia
• Meckel-Gruber syndrome
• multicystic dysplasia
• renal agenesis
• renal developmental lesions
• renal dysplasia