Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0151825 (bone pain)
 3,118 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 60-yr-old white woman with CREST syndrome (calcinosis cutis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, telangectasia), idiophatic portal hypertension and esophageal varices presented with a 2-month history of bone pain and severe anemia, requiring erythrocyte transfusion every 5-7 d. Initial laboratory findings were hemoglobin (Hb) 4.4 g/dL, platelets 15 x 10(9)/L, white blood cell count (WBC) 2.7 x 10(9)/L. Bone marrow biopsy showed large areas of BMN, and cultures of bone marrow aspirate were negative. The patient was started on intravenous pulse methylprednisolone (1000 mg/d for 3 d) followed by oral prednisone (1 mg/kg/d), and did not require erythrocyte transfusion thereafter. On the 40th day, our patient had Hb 11.6 g/dL, platelets 120 x 10(9)/L, WBC 6.2 x 10(9)/L. Here, we describe the first report of BMN in a patient with CREST syndrome, the first description of successful treatment with intravenous pulse corticosteroid and discuss the possible immune mechanisms involved in the present case.
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PMID:Bone marrow necrosis successfully treated with corticosteroid. 1561 12

Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by enhanced renal phosphate absorption, hyperphosphatemia, and tumor-like extraosseous calcifications due to inactivating mutations in FGF23 or associated proteins. Surgical excision is needed when low phosphate diet and phosphate binders are ineffective. Sporadic reports have supported acetazolamide use. We report on a 7-year-old African American boy who presented with severe HFTC requiring numerous surgical excisions. Tumors continued to appear and others reoccurred despite phosphate restriction and sevelamer carbonate. At the age of 9.5 years, acetazolamide (40 mg/kg/day) was added and resulted in mild metabolic acidosis (bicarbonate 25.3 mEq/L vs. 21.4 mEq/L, P < 0.001; serum pH 7.38 vs. 7.31, P = 0.013, pre- and post-acetazolamide, respectively) but no change in tubular reabsorption of phosphate (TRP) (96.9% vs. 95.9%, P = 0.34) or serum phosphate (6.6 mg/dl vs. 6.9 mg/dl, P = 0.52 pre- and post-acetazolamide, respectively). Following the initiation of acetazolamide therapy, the patient experienced significant improvement in disease course as indicated by resolution of localized bone pain, cessation of tumor formation, and no tumor recurrence. Despite mild metabolic acidosis, our patient had improved linear growth and did not develop any other side effects related to therapy. Intact FGF23 remained abnormally low throughout disease course, while C-terminal FGF23 increased with acetazolamide. We conclude that acetazolamide can control severe HFTC by inducing mild metabolic acidosis despite no change in serum phosphate or TRP. This effect may be exerted though improved calcium-phosphate complex solubility and increased FGF23 locally.
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PMID:Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. 2466 87

Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R. Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. Turk J Pediatr 2019; 61: 130-133. Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive disorder that is characterized by persistent hyperphosphatemia and extra-articular calcifications. Three cases were previously reported with hyperphosphatemic familial tumoral calcinosis that were associated with chronic recurrent multifocal osteomyelitis, an autoinflammatory disorder that is characterized by recurrent episodes of bone pain. We describe here an 11-year-old child who was diagnosed with these two conditions and was found to carry a splice site mutation c.1524+1G > A in the GALNT3 gene.
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PMID:Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. 3155 35