A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report
نویسندگان
چکیده
منابع مشابه
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
The aim of this study was to identify new pathogenic variations of the UGT1A1 gene in 11 patients diagnosed with neonatal unconjugated hyperbilirubinemia. We describe two cases in which clinically unapparent heterozygotic mutations in the UGT1A1 gene may become evident in combination with certain environmental conditions or additional genetic defects.
متن کاملHereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report
Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
متن کاملA novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report
INTRODUCTION About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase. To our knowledge, the mutation pattern in Arab patients with severe combined immunodeficiency has never been reported previously. CASE PRESENTATION A 14-month-old Arab boy had clinical features typical of severe...
متن کاملTrichobezoar Causing Gastric Perforation: A Case Report
Trichobezoars are impactions of swallowed hairs in the stomach and occasionally in the intestine. They occur in emotionally disturbed, depressed, or mentally retarded patients who have trichotillomania and trichophagia. Trichobezoars are usually diagnosed on CT scan or upper GI endoscopy. They can give rise to complications like gastroduodenal ulceration, haemorrhage, perforation, peritonitis, ...
متن کاملCase of Severe Unconjugated Hyperbilirubinemia in a Neonate Heterozygous for Gilbert Syndrome
We present an unusual case of unconjugated hyperbilirubinemia in a 6 day old infant. The bilirubin peaked at 20.1/ 0.6 mg/dL. A work-up for a hemolytic process or metabolic disorder was negative. Crigler-Najjar was suspected. Phenobarbital was given for 3 days with no ������ change in bilirubin level. He was discharged home after 20 days of phototherapy with a bilirubin of 3.1/0.4 mg/dL. Five m...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Pediatrics
سال: 2019
ISSN: 1471-2431
DOI: 10.1186/s12887-019-1555-y