Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Idiopathic myelofibrosis is characterized by bone marrow fibrosis, anemia, leukoerythroblastosis, and extramedullary hematopoiesis in many organs. Renal abnormalities in idiopathic myelofibrosis have been rarely described in the literature and include extramedullary hematopoiesis in the pararenal or retroperitoneal areas resulting in obstructive uropathy and hemtopoietic cell infiltration in tubulointerstitial area and urolithiasis. These lead to azotemia or acute renal failure, which may respond well to radiotherapy and adjuvant chemotherapy. To our knowledge, there has been only one case report of nephrotic syndrome associated with glomerulonephritis in a myelofibrosis patient; however, no effective treatment was described. Herein, we report the case of a patient with idiopathic myelofibrosis who initially presented with hepatomegaly, anemia, and leukoerythroblastosis. A nephrotic syndrome developed 7 years after initial diagnosis. Renal biopsy disclosed the unique pathological finding of simultaneous mesangial proliferative glomerulonephritis, renal extramedullary hematopoiesis, and gouty nephropathy. Despite treatment with busulfan, proteinuria persisted that implied irreversible glomerular injury and a terminal prognosis. We focus on the unusual pathological finding and the association between nephrotic syndrome and idiopathic myelofibrosis.
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PMID:Idiopathic myelofibrosis associated with renal extramedullary hematopoiesis and nephrotic syndrome: case report. 1564 Dec 21

Primary hyperoxaluria (PH) is a rare genetic disorder characterized by overproduction of oxalate due to specific enzyme deficiencies in glyoxylate metabolism. The primary clinical presentation is in the form of recurrent urolithiasis, progressive nephrocalcinosis, end-stage renal disease, and systemic oxalosis. Herein, we present a case of PH who was diagnosed at 47 years of age after 6 years on hemodialysis. He presented with fatigue, anorexia, weight loss, and was found to have cachexia, diffuse edema, hepatomegaly, ascites, hypercalcemia, hyperphosphatemia, hypoalbuminemia, low parathyroid hormone levels, lytic and resorptive areas in the vertebrae, diffusely increased echogenity of the liver, multiple renal stones, and bilateral nephrocalcinosis. Bone marrow biopsy showed calcium oxalate crystals and crystal granulomas. The liver biopsy could not be performed. The absence of an identifiable reason for secondary forms, the severity of the clinical presentation, and pathological findings led to the diagnosis of PH2. He died while waiting for a potential liver and kidney donor. The presented case is consistent with the literature as he had renal stone disease in the third decade and end-stage renal disease in the fifth decade. Hypercalcemia was thought to be due to osteoclast-stimulating activity of macrophages constituting the granuloma. Erythropoietin-resistant anemia and hypothyroidism were thought to be due to accumulation of oxalate in the bone marrow and thyroid gland, respectively. It is very important to keep in mind the possibility of PH when faced with a patient with nephrocalcinosis and oxalate stone disease.
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PMID:Primary hyperoxaluria in an adult presenting with end-stage renal failure together with hypercalcemia and hypothyroidism. 2211 29