Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome
نویسندگان
چکیده
منابع مشابه
Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome
Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterogeneous even in children from the same family; this study was conducted to determine the clinical ...
متن کاملBilateral nephrocalcinosis in primary hyperoxaluria type 1
A 31-year-old male presented with recurrent renal stones from the age of 12 years and renal failure secondary to nephrolithiasis on hemodialysis for the past 6 years. He had been born of a consanguineous union and one out of his five siblings also had a history of renal failure secondary to nephrolithiasis. He had moderate anemia. Abdominal X-ray showed bilateral nephrocalcinosis with multiple ...
متن کاملUnusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation
BACKGROUND Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients. METHODS Common mutations in AGXT were tested using PCR/RF...
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Primary hyperoxaluria type 1 is a rare autosomal recessive inborn error based on absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGXT). Some mutations arevery rarely described in the adult patients as the 33-34InsC mutation, known as responsible for a terrible severe clinical feature that can lead to early death occurring the ...
متن کاملType 1 primary hyperoxaluria in a male infant
ed with poor feeding, respiratory distress and decreased urine output. He was noted to be in the 1st percentile for weight, and 60th percentile for height. At admission he was hypertensive with systolic blood pressures ranging from 107-124 mmHg and diastolic pressures of 6672 mmHg. Physical exam was remarkable for fussiness and decreased musculoskeletal tone for age. Labs demonstrated hemoglobi...
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ژورنال
عنوان ژورنال: International Journal of Nephrology
سال: 2015
ISSN: 2090-214X,2090-2158
DOI: 10.1155/2015/634175