Ontology type: schema:ScholarlyArticle Open Access: True
2019-05-27
AUTHORSChina Nagano, Naoya Morisada, Kandai Nozu, Koichi Kamei, Ryojiro Tanaka, Shoichiro Kanda, Shinichi Shiona, Yoshinori Araki, Shinichiro Ohara, Chieko Matsumura, Katsuaki Kasahara, Yukiko Mori, Akane Seo, Kenichiro Miura, Miki Washiyama, Keisuke Sugimoto, Ryoko Harada, Satoshi Tazoe, Hiroyo Kourakata, Mayumi Enseki, Daisuke Aotani, Takeshi Yamada, Nana Sakakibara, Tomohiko Yamamura, Shogo Minamikawa, Kenji Ishikura, Shuichi Ito, Motoshi Hattori, Kazumoto Iijima
ABSTRACTBackgroundHepatocyte nuclear factor 1β (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Moreover, various phenotypes related to congenital anomalies of the kidney and urinary tract (CAKUT) or Bartter-like electrolyte abnormalities can be caused by HNF1B variants. In addition, 17q12 deletion syndrome presents with multi-system disorders, as well as RCAD. As HNF1B mutations are associated with different phenotypes and genotype–phenotype relationships remain unclear, here, we extensively studied these mutations in Japan.MethodsWe performed genetic screening of RCAD, CAKUT, and Bartter-like syndrome cases. Heterozygous variants or whole-gene deletions in HNF1B were detected in 33 cases (19 and 14, respectively). All deletion cases were diagnosed as 17q12 deletion syndrome, confirmed by multiplex ligation probe amplification and/or array comparative genomic hybridization. A retrospective review of clinical data was also conducted.ResultsMost cases had morphological abnormalities in the renal–urinary tract system. Diabetes developed in 12 cases (38.7%). Hyperuricemia and hypomagnesemia were associated with six (19.3%) and 13 cases (41.9%), respectively. Pancreatic malformations were detected in seven cases (22.6%). Ten patients (32.3%) had liver abnormalities. Estimated glomerular filtration rates were significantly lower in the patients with heterozygous variants compared to those in patients harboring the deletion (median 37.6 vs 58.8 ml/min/1.73 m2; p = 0.0091).ConclusionWe present the clinical characteristics of HNF1B-related disorders. To predict renal prognosis and complications, accurate genetic diagnosis is important. Genetic testing for HNF1B mutations should be considered for patients with renal malformations, especially when associated with other organ involvement. More... »
PAGES1119-1129
http://scigraph.springernature.com/pub.10.1007/s10157-019-01747-0
DOIhttp://dx.doi.org/10.1007/s10157-019-01747-0
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1115804186
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/31131422
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"description": "BackgroundHepatocyte nuclear factor 1\u03b2 (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Moreover, various phenotypes related to congenital anomalies of the kidney and urinary tract (CAKUT) or Bartter-like electrolyte abnormalities can be caused by HNF1B variants. In addition, 17q12 deletion syndrome presents with multi-system disorders, as well as RCAD. As HNF1B mutations are associated with different phenotypes and genotype\u2013phenotype relationships remain unclear, here, we extensively studied these mutations in Japan.MethodsWe performed genetic screening of RCAD, CAKUT, and Bartter-like syndrome cases. Heterozygous variants or whole-gene deletions in HNF1B were detected in 33 cases (19 and 14, respectively). All deletion cases were diagnosed as 17q12 deletion syndrome, confirmed by multiplex ligation probe amplification and/or array comparative genomic hybridization. A retrospective review of clinical data was also conducted.ResultsMost cases had morphological abnormalities in the renal\u2013urinary tract system. Diabetes developed in 12 cases (38.7%). Hyperuricemia and hypomagnesemia were associated with six (19.3%) and 13 cases (41.9%), respectively. Pancreatic malformations were detected in seven cases (22.6%). Ten patients (32.3%) had liver abnormalities. Estimated glomerular filtration rates were significantly lower in the patients with heterozygous variants compared to those in patients harboring the deletion (median 37.6 vs 58.8\u00a0ml/min/1.73 m2; p\u2009=\u20090.0091).ConclusionWe present the clinical characteristics of HNF1B-related disorders. To predict renal prognosis and complications, accurate genetic diagnosis is important. Genetic testing for HNF1B mutations should be considered for patients with renal malformations, especially when associated with other organ involvement.",
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