Niemann-Pick disease overview: Difference between revisions
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==Overview== | ==Overview== | ||
'''Niemann-Pick disease (NPD)''' is a group of [[autosomal recessive]] disorders that are classified into two broad types. Types A and B NPD are [[lysosomal storage disease]]s due to [[sphingomyelinase]] deficiency. Type C NPD results from defective intracellular trafficking of cholesterol. Both types are featured by deposition of lipids such as [[cholesterol]], [[sphingomyelin]], and [[bisphosphonate]] in various organs. | |||
Types A and B are charachterized by an early age of onset and progressive CNS disease in type A. Type A typically has onset in the first 6 months, with rapidly progressive CNS deterioration, spasticity, failure to thrive, and massive hepatosplenomegaly. In contrast, type B has a later, more variable onset and progression of hepatosplenomegaly, with eventual development of cirrhosis and hepatic replacement by foam cells. Affected patients develop progressive pulmonary disease with dyspnea, hypoxemia, and a reticular infiltrative pattern on chest x-ray. | |||
The diagnosis is established by markedly decreased (1–10% of normal) sphingomyelinase activity in nucleated cells. There is no specific treatment for Niemann-Pick disease. The efficacy of hepatic or bone marrow transplantation has not been proven yet. Clinical trials using enzyme therapy are expected in the near future. | |||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating Niemann-Pick disease from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
===Complications=== | |||
===Prognosis=== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Endocrinology]] | |||
[[Category:Neurology]] | |||
{{WS}} | |||
{{WH}} | {{WH}} | ||
Latest revision as of 16:18, 25 July 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Niemann-Pick disease (NPD) is a group of autosomal recessive disorders that are classified into two broad types. Types A and B NPD are lysosomal storage diseases due to sphingomyelinase deficiency. Type C NPD results from defective intracellular trafficking of cholesterol. Both types are featured by deposition of lipids such as cholesterol, sphingomyelin, and bisphosphonate in various organs. Types A and B are charachterized by an early age of onset and progressive CNS disease in type A. Type A typically has onset in the first 6 months, with rapidly progressive CNS deterioration, spasticity, failure to thrive, and massive hepatosplenomegaly. In contrast, type B has a later, more variable onset and progression of hepatosplenomegaly, with eventual development of cirrhosis and hepatic replacement by foam cells. Affected patients develop progressive pulmonary disease with dyspnea, hypoxemia, and a reticular infiltrative pattern on chest x-ray.
The diagnosis is established by markedly decreased (1–10% of normal) sphingomyelinase activity in nucleated cells. There is no specific treatment for Niemann-Pick disease. The efficacy of hepatic or bone marrow transplantation has not been proven yet. Clinical trials using enzyme therapy are expected in the near future.