Figure 1.

Pathology Findings in Patients with Loss-of-Function NPHP3 Mutations

(A–D) Autopsy findings in the second affected patient of family 888.

(A) Multicystic dysplastic kidneys. The smaller right kidney had a dilated pelvis due to ureteric atresia in utero. The left kidney had a patent, but thinned ureter and reduced urinary output.

(B) Higher-magnification histology (×20) shows a picture with renal cysts of variable size and location as well as interstitial fibrosis consistent with multicystic-dysplastic kidney disease.

(C) Congenital pancreatic disease with smaller and larger cysts and fibrosis. Pancreatic acini have normal appearance (×40).

(D) Liver histology reveals ductal plate malformation with hyperplastic biliary ducts and congenital hepatic fibrosis (×40).

(E) Low-magnification histology of a renal cross-section (×2.5) from the first affected patient of family 806 that is consistent with multicystic dysplastic kidney disease.

(F) Renal biopsy specimen of the proposita of family 960 displaying diffuse glomerulocystic kidney disease (×40). Please note glomerular structures within the cysts.