Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 25-year-old woman with oxalosis and end-stage renal disease had pancytopenia and massive hepatosplenomegaly associated with extensive bone marrow deposition of calcium oxalate. A ferrokinetic study suggested profound reduction in erythrocyte production, and peripheral blood smears were compatible with myelophthisis and extramedullary hematopoiesis. Mechanical obliteration of bone marrow by calcium oxalate crystals may lead to pancytopenia and hepatosplenomegaly as late extrarenal complications of oxalosis.
 ...
PMID:Pancytopenia and hepatosplenomegaly in oxalosis. 669 53

A 24-year-old man, with type 1 primary hyperoxaluria (diagnosed at age 20 years after repeated renal lithiasis, due to a I244T mutation frequently encountered in Mediterranean countries) complicated by end-stage renal failure requiring dialysis, was admitted for pancytopenia, refractory to erythropoietin injections. On clinical examination, he presented a hepatosplenomegaly without palpable adenopathy. F-FDG PET/CT revealed intense and diffuse bone marrow uptake in the axial skeleton and preferential long bone metaphyseal uptake. Bone marrow aspiration showed Gaucher-like cells infiltration due to oxalate accumulation in macrophages, leading to the diagnosis of bone marrow involvement by primary hyperoxaluria.
 ...
PMID:Diffuse Hypermetabolic Bone Marrow Infiltration in Severe Primary Hyperoxaluria on FDG PET. 3236 92