Bilateral nephrocalcinosis 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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A 74-year-old man presented to the renal unit 5 years ago with end-stage renal failure due to nephrocalcinosis. He has had numerous small bowel resections in the past for Crohn’s disease, resulting in short bowel syndrome. The nephrocalcinosis was due to hyperoxaluria. His abdominal radiograph (Figure 1) shows the cortical pattern of calcium oxalate crystal deposition seen in hyperoxaluria. He ...
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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...
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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: Indian Journal of Nephrology
سال: 2016
ISSN: 0971-4065
DOI: 10.4103/0971-4065.189317