A patient with an NBAS mutation may developed recurrent episodes of acute liver failure during infancy and childhood triggered by acute febrile infections.
Gene: NBAS (neuroblastoma amplified sequence)
Location: 2p24.3
Inheritance: autosomal recessive
The patient presents with acute liver failure (ALF) associated with a febrile infection, usually during infancy. Recurrent episodes of ALF may occur with subsequent episodes of febrile illness.
The patient may show physical features of the SOPH (short stature, optic nerve atrophy, and Pelger-Huet anomaly) syndrome.
Hypogammaglobulinemia may explain recurrent episodes of febrile infections.
The condition may improve as the person becomes older.
The acute liver failure can be ameliorated by:
(1) antipyretic therapy
(2) induction of anabolism (glucose, parenteral lipids)
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