Peter G. Czarnecki

Does this patient have autosomal recessive familial juvenile nephronophthisis? Nephronophthisis comprises a group of genetic tubulointerstitial disorders with autosomal recessive pattern of inheritance (Figure 1) that progress to end-stage renal failure and that are clinically sub-classified by the variability in age of occurrence and the presence of syndromatic extrarenal manifestations. Historically, the term “juvenile nephronophthisis-medullary…

Does this patient have autosomal recessive polycystic kidney disease (ARPKD)? Autosomal recessive polycystic kidney disease (ARPKD) is a rare autosomal recessive kidney disease (Figure 1) that usually manifests itself in newborns, infants, or young children. ARPKD typically affects both the kidneys and the liver. At birth, babies may present with large palpable flank masses that…