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BMJ Case Rep ; 17(3)2024 Mar 21.
Artículo en Inglés | MEDLINE | ID: mdl-38514166

RESUMEN

A term baby presented with cholestatic jaundice since birth. She was diagnosed as gestational alloimmune liver disease-neonatal haemochromatosis (GALD-NH) on evaluation. The baby received intravenous immunoglobulin (IVIG) and recovered gradually from the illness. She was also diagnosed with alpha thalassaemia during the course of evaluation, confirmed by genetic testing. NH is a very rare disorder that results in fetal loss or neonatal death due to liver failure. NH is now known to be a phenotypic expression of GALD. Worldwide, NH is seen in less than one in a million pregnancies. The mortality rate of GALD has traditionally been around 80% with almost all babies needing liver transplantation, with advent of maternal and neonatal IVIG treatment, this has reduced significantly. There is no reported case of GALD-NH treated successfully with IVIG from India. Here, we report an interesting case of GALD-NH with alpha thalassaemia.


Asunto(s)
Enfermedades Fetales , Hemocromatosis , Enfermedades del Recién Nacido , Fallo Hepático , Talasemia alfa , Embarazo , Recién Nacido , Femenino , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Talasemia alfa/complicaciones , Talasemia alfa/diagnóstico , Hemocromatosis/complicaciones , Hemocromatosis/diagnóstico
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