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

Yuki Nakayama; Naoki Sawa; Tatsuya Suwabe; Masayuki Yamanouchi; Daisuke Ikuma; Hiroki Mizuno; Eiko Hasegawa; Junichi Hoshino; Akinari Sekine; Yuki Oba; Kei Kono; Keiichi Kinowaki; Kenichi Ohashi; Yutaka Yamaguchi; Kandai Nozu; Yoshifumi Ubara

doi:10.2169/internalmedicine.9364-22

CASE REPORTS

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

Yuki Nakayama, Naoki Sawa, Tatsuya Suwabe, Masayuki Yamanouchi, Daisuke Ikuma, Hiroki Mizuno, Eiko Hasegawa, Junichi Hoshino, Akinari Sekine, Yuki Oba, Kei Kono, Keiichi Kinowaki, Kenichi Ohashi, Yutaka Yamaguchi, Kandai Nozu, Yoshifumi Ubara

Author information

Yuki Nakayama
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Naoki Sawa
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Tatsuya Suwabe
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Masayuki Yamanouchi
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Daisuke Ikuma
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Hiroki Mizuno
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Eiko Hasegawa
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Junichi Hoshino
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Akinari Sekine
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Yuki Oba
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan
Kei Kono
Department of Pathology, Toranomon Hospital Kajigaya, Japan
Keiichi Kinowaki
Department of Pathology, Toranomon Hospital Kajigaya, Japan
Kenichi Ohashi
Department of Pathology, Toranomon Hospital Kajigaya, Japan
Department of Human Pathology, Tokyo Medical Dental University, Japan
Yutaka Yamaguchi
Yamaguchi's Pathology Laboratory, Japan
Kandai Nozu
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
Yoshifumi Ubara
Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital Kajigaya, Japan

Keywords: autosomal dominant tubulointerstitial kidney disease (ADTKD), medullary dysplasia, hepatocyte nuclear factor 1β (HNF1B)

JOURNAL OPEN ACCESS
Supplementary material

2023 Volume 62 Issue 3 Pages 419-422

DOI https://doi.org/10.2169/internalmedicine.9364-22

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Abstract

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.

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