What is the most common form of renal cystic disease in infants?

What is the most common form of renal cystic disease in infants?

• A. ADPKD
• B. ARPKD
• C. Nephrocalcinosis
• D. MCKD

Answer: (D)

In infants, the most common cystic kidney disease is autosomal recessive polycystic kidney disease. It typically presents with bilateral, enlarged, highly echogenic kidneys and poor corticomedullary differentiation on ultrasound. There’s often associated involvement of the biliary system, with congenital hepatic fibrosis, and the infant may have oligohydramnios and related complications at birth. This form arises from PKHD1 mutations and is distinguished from other renal cystic conditions by its infancy presentation and characteristic ultrasound and systemic associations. Other conditions described are not typical for infancy: autosomal dominant polycystic kidney disease usually presents later in life with multiple cysts and a family history; medullary cystic kidney disease tends to present in older children or adults with tubulointerstitial disease and cysts in the medulla; nephrocalcinosis involves calcifications rather than true cystic kidneys.

In infants, the most common cystic kidney disease is autosomal recessive polycystic kidney disease. It typically presents with bilateral, enlarged, highly echogenic kidneys and poor corticomedullary differentiation on ultrasound. There’s often associated involvement of the biliary system, with congenital hepatic fibrosis, and the infant may have oligohydramnios and related complications at birth. This form arises from PKHD1 mutations and is distinguished from other renal cystic conditions by its infancy presentation and characteristic ultrasound and systemic associations.

Other conditions described are not typical for infancy: autosomal dominant polycystic kidney disease usually presents later in life with multiple cysts and a family history; medullary cystic kidney disease tends to present in older children or adults with tubulointerstitial disease and cysts in the medulla; nephrocalcinosis involves calcifications rather than true cystic kidneys.