storage diseases


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splenomegaly

Enlarged spleen Enlargement of spleen for any reason, which is usually a manifestation of underlying disease; the only specific finding in splenomegaly is dragging sensation in the upper right quadrant; megalic spleens may reach 4.0+ kg–eg, in agnogenic myeloid metaplasia
Splenomegaly
Congestion Cirrhosis, CHF, thrombosis of portal or splenic veins
Infection
• Bacteria Brucellosis, infective carditis agents, syphilis, TB, typhoid fever
• Fungi Histoplasmosis
• Parasites Echinococcosis, leishmaniasis, malaria, schistosomiasis, toxoplasmosis, trypanosomiasis
• Viruses CMV, EBV
Inflammatory/immune-related Rheumatoid arthritis, SLE
Hematopoietic disease/Lymphoid function
• Malignant Leukemias, eg ALL, CLL, myeloproliferative disorders–eg agnogenic myeloid metaplasia, CML, multiple myeloma, polycythemia vera; lymphomas–Hodgkin's disease, NHL
• Nonmalignant Hemolytic anemia, histiocytosis, ITP
Storage diseases Gaucher's disease, mucopolysaccharidosis, Niemann-Pick disease
Etc Amyloidosis, cysts, hypersplenism, metastases, primary tumors

storage diseases

A range of metabolic disorders in which various substances accumulate in abnormal amounts in certain body tissues or organs such as the liver. See also SPHINGOLIPIDOSES.
References in periodicals archive ?
A gene panel that contains 142 neuromuscular disorder-related genes, including 15 genes responsible for glycogen storage disease, was used for next-generation sequencing.
Lysosomal acid lipase (LAL) [3] deficiency is an autosomal recessive lysosomal storage disease with 2 distinct phenotypes: a severe infantile form known as Wolman disease and a milder, later-onset form referred to as cholesterol ester storage disease (1).
Liver storage disease in Iran: A ten year study of liver biopsies in Children Medical Center Hospital in Tehran-Iran.
Enzyme-replacement therapies for lysosomal storage diseases. Technical Brief No.
Leslie, Glycogen Storage Disease Type II(Pompe Disease), in GeneReviews, R.A.
(8.) Chen YT Glycogen storage diseases. In: Scriver C, Beaudet A, Sly W, Valle D, Childs B, KinzlerKW, Vogelstein B, (eds).
In lysosomal storage diseases like MPS I, enzymes needed to dissolve debris are missing, allowing debris to build up in cells until they malfunction.
patent covering the use of nonembryonic, multipotent stem cells, such as MultiStem, for the treatment of lysosomal storage diseases
Health professionals in the field of Lysosomal Storage Diseases (LSD), a collective term for over 50 rare inherited metabolic diseases that mostly affect children, from across the globe attended a conference organised by the Hamad Medical Corporation to discuss the recent advances in basic and clinical aspects of the diseases.
Together with hepatosplenomegaly, prolonged PT and aPTT, and elevated ALT and AST, storage diseases were considered in the differential diagnosis.
London, May 10 (ANI): Scientists at The Scripps Research Institute have shed light on a mechanism that enables a potential treatment for Gaucher's disease and other lysosomal storage diseases.
The other glycogen storage diseases that present a normal glycogen structure are (1-4):