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

• Published in: Journal of medical case reports Vol. 12; no. 1; p. 203
• Main Authors: Liu, Jiaojiao, Shen, Qian, Li, Guomin, Xu, Hong
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 14.07.2018; BioMed Central; BMC
• Subjects: Age; Case Report; Case reports; Child; Congenital diseases; Congenital Hyperinsulinism - genetics; Diabetes; Ethnicity; Families & family life; Fanconi syndrome; Fanconi Syndrome - genetics; Female; Gallbladder diseases; Gene analysis; Gene mutation; Genes; Genetic aspects; Genotype & phenotype; Glucose; Hearing loss; Hearing Loss - genetics; Hepatocyte Nuclear Factor 4 - genetics; Hepatocytes; Heterozygote; HNF4A; Humans; Hyperinsulinemic hypoglycemia; Hypoglycemia; Kidney diseases; Laboratories; Medical screening; Mutation; Patients; China; Hyperinsulinemic hypoglycemia; Fanconi syndrome; HNF4A; Gene analysis; Hearing loss
• ISSN: 1752-1947; 1752-1947
• DOI: 10.1186/s13256-018-1740-x

The p.R63W mutation in hepatocyte nuclear factor-4 alpha (HNF4A) leads to a heterogeneous group of disorders with various clinical presentations. Recently, patients with congenital hyperinsulinism and Fanconi syndrome due to the p.R63W mutation in HNF4A have been described. Although other clinical variations such as liver dysfunction have been associated with HNF4A mutations, hearing impairment has not previously been associated. We report the case of a patient with Fanconi syndrome and hyperinsulinemic hypoglycemia caused by the mutation of HNF4A presenting with additional auditory phenotypes. We present a case report of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. In addition, she presented with bilateral severe hearing loss. Gene analysis showed a heterozygous p.R63W mutation in the HNF4A gene that is responsible for Fanconi syndrome and hyperinsulinemic hypoglycemia. This is the first case of HNF4A mutation associated with an auditory phenotype. It expands the clinical phenotypes and supports speculation in the literature that HNF4A may be a candidate gene for deafness. In conclusion, hearing loss may be found in children with HNF4A-related Fanconi syndrome, and auditory function should be assessed.