Is there a genotype–phenotype correlation in primary hyperoxaluria type 1?
نویسندگان
چکیده
منابع مشابه
Bilateral 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 ...
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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...
متن کاملSalivary and Serum Ferritin Levels: Is There a Correlation?
Background and Aim: Blood samples are used for the diagnosis of many diseases. Serum ferritin level is known to be a marker of anemia and iron overload disorders. However, blood collection is an invasive method. Saliva, as a bio-fluid, contains a va-riety of important components that are successfully used for assessment of body health. The use of saliva samples for ferritin evaluation can be re...
متن کاملPrimary 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 کاملRenal graft failure due to type 1 primary hyperoxaluria.
Primary hyperoxaluria type 1 (PH1) usually presents with recurrent urolithiasis, nephrocalcinosis and progressive renal failure at a relatively young age. This report describes a patient who, due to the late onset of end-stage renal disease, had been diagnosed with PH1 only after failure of his second kidney graft. Retrospectively, his vascular problems, skeletal abnormalities and cardiac arrhy...
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ژورنال
عنوان ژورنال: Kidney International
سال: 2006
ISSN: 0085-2538
DOI: 10.1038/sj.ki.5001797