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.
Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
MeSH terms
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Calcium / urine*
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Congenital Hyperinsulinism / complications*
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Congenital Hyperinsulinism / genetics
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Congenital Hyperinsulinism / urine
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Fanconi Syndrome / complications*
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Fanconi Syndrome / genetics
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Fanconi Syndrome / urine
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Hepatocyte Nuclear Factor 4 / genetics*
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Hepatomegaly / diagnosis
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Hepatomegaly / etiology*
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Humans
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Infant, Newborn
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Male
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Mutation, Missense
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Nephrocalcinosis / complications
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Nephrocalcinosis / genetics
Substances
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HNF4A protein, human
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Hepatocyte Nuclear Factor 4
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Calcium