Kidney Histology Findings in a Patient with Autosomal Dominant Tubulointerstitial Kidney Disease Subtype Hepatocyte Nuclear Factor 1β

• Published in: Internal Medicine 2023/02/01, Vol.62(3), pp.419-422
• Main Authors: Nakayama, Yuki, Sawa, Naoki, Suwabe, Tatsuya, Yamanouchi, Masayuki, Ikuma, Daisuke, Mizuno, Hiroki, Hasegawa, Eiko, Hoshino, Junichi, Sekine, Akinari, Oba, Yuki, Kono, Kei, Kinowaki, Keiichi, Ohashi, Kenichi, Yamaguchi, Yutaka, Nozu, Kandai, Ubara, Yoshifumi
• Format: Article
• Language: English
• Subjects: Adult; autosomal dominant tubulointerstitial kidney disease (ADTKD); Biopsy; Capillaries; Case Report; Collecting duct; Computed tomography; Dysplasia; Epithelial cells; Female; Fibrosis; Hepatocyte Nuclear Factor 1-beta - genetics; hepatocyte nuclear factor 1β (HNF1B); Humans; Hypoplasia; Internal medicine; Kidney - diagnostic imaging; Kidney - pathology; Kidney diseases; Magnetic resonance imaging; medullary dysplasia; Neuroimaging; Polycystic Kidney Diseases; Tubules
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.9364-22

We evaluated kidney histology in a 43-year-old woman with autosomal dominant tubulointerstitial kidney disease subtype hepatocyte nuclear factor 1β. Magnetic resonance imaging showed multiple cysts in the renal medullary area, and computed tomography showed hypoplasia of the pancreatic body and tail. A kidney biopsy showed thinning of the cortex, size reduction of glomerular tuft area, proximal tubule clustering, fibrosis around the tubules, loss of peritubular capillaries, and multilayered epithelial cells of cortical collecting ducts; this last finding was consistent with so-called medullary dysplasia specific to congenital disease, in which the renal pelvic epithelial cells enter the collecting duct.