Literature DB >> 25819479

Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.

Chikahiko Numakura1, Yukiko Hashimoto2, Takashi Daitsu3, Kiyoshi Hayasaka3, Tetsuo Mitsui3, Tohru Yorifuji2.   

Abstract

The HNF4A p.R76W mutation causes congenital hyperinsulinism with Fanconi syndrome. Here, we report two cases who also presented with increased urinary calcium excretion and one had a transient hepatic dysfunction with hepatomegaly. Clinical variations including transient liver dysfunction is a likely mutation-specific clinical characteristic.
Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  Congenital hyperinsulinism; Fanconi syndrome; HNF4A; Hepatomegaly; Nephrocalcinosis

Mesh：

Substances：

Year:  2015        PMID： 25819479     DOI： 10.1016/j.diabres.2015.03.005

Source DB:  PubMed          Journal:  Diabetes Res Clin Pract        ISSN： 0168-8227            Impact factor:   5.602


  8 in total

1.  Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers.

Authors:  Laura Betcherman; Mathieu Lemaire; Christoph Licht; David Chitayat; Jennifer Harrington; Damien Noone
Journal:  Pediatr Nephrol       Date:  2019-09-16       Impact factor: 3.714

2.  Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.

Authors:  Joanna Yuet-Ling Tung; Kara Boodhansingh; Charles A Stanley; Diva D De León
Journal:  Pediatr Diabetes       Date:  2018-03-01       Impact factor: 4.866

3.  Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.

Authors:  Sarah E Sheppard; Brett Barrett; Colleen Muraresku; Heather McKnight; Diva D De Leon; Katherine Lord; Rebecca Ganetzky
Journal:  Am J Med Genet A       Date:  2020-11-30       Impact factor: 2.802

4.  Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.

Authors:  María Clemente; Alejandro Vargas; Gema Ariceta; Rosa Martínez; Ariadna Campos; Diego Yeste
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2017-03-16

5.  Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria-Case Report.

Authors:  Antje Knapke; Guylhène Bourdat Michel; Isabelle Marey; Pauline Le Tanno
Journal:  Front Pediatr       Date:  2022-02-23       Impact factor: 3.418

Review 6.  HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature.

Authors:  Jiaojiao Liu; Qian Shen; Guomin Li; Hong Xu
Journal:  J Med Case Rep       Date:  2018-07-14

7.  A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome.

Authors:  Oluwaseun Anyiam; Elizabeth Wallin; Felicity Kaplan; Christopher Lawrence
Journal:  Case Rep Med       Date:  2019-12-25

Review 8.  Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.

Authors:  Maria Gϋemes; Sofia Asim Rahman; Ritika R Kapoor; Sarah Flanagan; Jayne A L Houghton; Shivani Misra; Nick Oliver; Mehul Tulsidas Dattani; Pratik Shah
Journal:  Rev Endocr Metab Disord       Date:  2020-12       Impact factor: 6.514
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.