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

Diabetes Res Clin Pract. 2015 Jun;108(3):e53-5. doi: 10.1016/j.diabres.2015.03.005. Epub 2015 Mar 13.

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.

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

Publication types

  • Case Reports

MeSH terms

  • Calcium / urine*
  • Congenital Hyperinsulinism / complications*
  • Congenital Hyperinsulinism / genetics
  • Congenital Hyperinsulinism / urine
  • Fanconi Syndrome / complications*
  • Fanconi Syndrome / genetics
  • Fanconi Syndrome / urine
  • Hepatocyte Nuclear Factor 4 / genetics*
  • Hepatomegaly / diagnosis
  • Hepatomegaly / etiology*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense
  • Nephrocalcinosis / complications
  • Nephrocalcinosis / genetics

Substances

  • HNF4A protein, human
  • Hepatocyte Nuclear Factor 4
  • Calcium