title: Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.
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.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan. Electronic address: cnumakur@med.id.yamagata-u.ac.jp.
authors.forename: Chikahiko
authors.initials: C
authors.lastname: Numakura
authors.affiliation: Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Hashimoto
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Daitsu
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Mitsui
authors.affiliation: Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
authors.forename: Tohru
authors.initials: T
authors.lastname: Yorifuji
mesh_terms: D002118:Calcium / Q000652:urine*; D044903:Congenital Hyperinsulinism / Q000150:complications* / Q000235:genetics / Q000652:urine; D005198:Fanconi Syndrome / Q000150:complications* / Q000235:genetics / Q000652:urine; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics*; D006529:Hepatomegaly / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D009397:Nephrocalcinosis / Q000150:complications / Q000235:genetics
chemical_list: C496592:HNF4A protein, human; D051557:Hepatocyte Nuclear Factor 4; D002118:Calcium
keywords: Congenital hyperinsulinism; Fanconi syndrome; HNF4A; Hepatomegaly; Nephrocalcinosis