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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amyloidosis occurs in association with many diseases and can also be idiopathic. It is usually a systemic disease with variable presentations. The diagnosis should be suspected in patients with unexplained proteinuria, cardiomyopathy, congestive heart failure, peripheral neuropathy, carpal tunnel syndrome, macroglossia, or hepatosplenomegaly. Amyloidosis generally has a poor prognosis and responds poorly to therapy. Much needs to be learned about its pathogenesis and treatment possibilities.
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PMID:The many guises of amyloidosis. Clinical presentations and disease associations. 793 10

We report our experience in nine patients with Hurler syndrome (six with a severe and three with an intermediate phenotype) who successfully engrafted after bone marrow transplantation. The donor was a human leukocyte antigen-identical sibling in six cases, the human leukocyte antigen-identical father in one case, and an unrelated donor in two cases. One patient with Hurler syndrome and an intermediate phenotype received two successive grafts from the same donor. There was a beneficial effect of bone marrow transplantation on visceral features (hepatosplenomegaly, obstruction of the upper airway, and coarse facies); however, dysostosis multiplex worsened. All patients but one required surgery for carpal tunnel syndrome. Visual acuity was low because of corneal clouding, and two patients had glaucoma several years after the graft. Five patients had normal hearing before the graft that remained normal, and four had hearing impairment that improved. All patients had learning difficulties, but none had severe mental retardation (IQ ranging from 75 to 103). The follow-up of patients with severe Hurler syndrome engrafted for more than 10 years emphasizes the limits and benefits of bone marrow transplantation.
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PMID:Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. 967 3

The amyloidoses are group of heterogeneous disorders, in which synthesized and secreted proteins, as a soluble molecules, are formed into insoluble, fibrillar tissue deposits, leading to organ dysfunction. Classification now is based on the chemical nature of the fibrillar component of the deposits. One of these is light-chain amyloidosis (AL). The aim of the study was to describe of multiple myeloma patients and amyloidosis. The study group consisted of 45 patients (16 men and 29 women). The diagnosis was made by fine-needle aspiration of subcutaneous fat and then staining the tissue with Congo red. We also analyse the concentration of the serum SAA. We analyse the most characteristic features of AL as hearth failure, proteinuria, renal failure, carpal tunnel syndrome, hepatosplenomegaly, macroglossia and orthostatic hypotension. Among the multiple myeloma patients we found 17 with AL amyloid and 35 persons with elevated concentration of the serum SAA. The most frequent symptoms were related with renal failure and heart failure.
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PMID:[Amyloidosis in the course of multiple myeloma]. 1620 48

The lysosomal storage disorders are a collection of progressive, multisystem disorders that frequently present in childhood. Their timely diagnosis is paramount as they are becoming increasingly treatable. Musculoskeletal manifestations often occur early in the disease course, hence are useful as diagnostics clues. Non-inflammatory joint stiffness or pain, carpal tunnel syndrome, trigger fingers, unexplained pain crises and short stature should all prompt consideration of a lysosomal storage disorder. Recurrent ENT infections, hepatosplenomegaly, recurrent hernias and visual/hearing impairment - especially when clustered together - are important extra-skeletal features. As diagnostic and therapeutic options continue to evolve, children with lysosomal storage disorders and their families are facing more sophisticated options for screening and treatment. The aim of this article is to highlight the paediatric presentations of lysosomal storage disorders, with an emphasis on the musculoskeletal features.
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PMID:Lysosomal storage disorders: A review of the musculoskeletal features. 2712 40