Primary hyperoxaluria diagnosed on bone marrow biopsy in pancytopenic adult patient with end stage renal disease, a case report
محل انتشار: هفدهمین همایش سالانه آسیب شناسی و طب آزمایشگاه
سال انتشار: 1394
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 386
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شناسه ملی سند علمی:
ACPLMED17_013
تاریخ نمایه سازی: 20 آبان 1397
چکیده مقاله:
Inborn errors of metabolism cause increase of metabolites in serum and their deposition in various organs including bone marrow. Primary hyperoxaluria (PHO) is a rare inborn error in the pathway of glyoxylate metabolism which causes excessive oxalate production. The disease is characterized by widespread deposition of calcium oxalate (oxalosis) in multiple organs. Urinary tract including renal parenchyma is the initial site of deposition followed by extrarenal organs such as bone marrow.This case report introduces a 54 year-old woman with end stage renal disease presenting with debilitating fatigue and pancytopenia. The remarkable point in her past medical history was recurrent episodes of nephrolithiasis, urolithiasis, and urinary tract infection since the age of 5 years and resultant end stage renal disease in adulthood in the absence of appropriate medical evaluation and treatment. She had an unsuccessful renal transplantation with transplant rejection. The patient underwent bone marrow biopsy for evaluation of pancytopenia. Microscopic study of bone marrow biopsy led to the diagnosis of primary hyperoxaluria.
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نویسندگان
Pardis Nematollahi
Dept. of Pathology , Assistant professor , Isfahan University of Medical Science
Fereshteh Mohammadizadeh
Dept. of Pathology , Associate professor , Isfahan University of Medical Science