Niemann-Pick disease: Difference between revisions

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Latest revision as of 16:16, 25 July 2016

For patient information click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Christeen Henen, M.D. [2]

Synonyms and keywords: NPD

Type A Niemann-Pick disease: classical Niemann-Pick disease; Niemann-Pick disease, acute neuronopathic form; sphingomyelin lipidosis; sphingomyelinase deficiency

Type B Niemann-Pick disease: Niemann-Pick disease, adult non-neuronopathic; Niemann-Pick disease, visceral; Niemann-Pick disease, type E

Type C Niemann-Pick disease: Neurovisceral storage disease with vertical supranuclear ophthalmoplegia; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease without sphingomyelinase deficiency; Niemann-Pick disease, chronic neuronopathic form; Niemann-Pick disease, subacute juvenile form; Niemann-Pick disease, type D; Nova Scotia Niemann-Pick disease

Diagnosis

Treatment

Case Studies

Case #1

Related Chapters

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+__NOTOC__
+{{Niemann-Pick disease}}
 '''For patient information click [[Niemann-Pick disease (patient information)|here]]'''
-{{Infobox_Disease |
-  Name           = {{PAGENAME}} |
-  Image          = Niemann Pick disease micro.jpg|
-  Caption        = Bone marrow aspirate smear from a child with Niemann-Pick disease. A large foamy histiocyte typical of this disorder is illustrated. (Wright-Giemsa stain). <br> <small> [http://www.peir.net Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology] </small> |
-  DiseasesDB     = |
-  ICD10          = {{ICD10|E|75|2|e|70}} ([[ILDS]] E75.230) |
-  ICD9           = {{ICD9|272.7}} |
-  ICDO           = |
-  OMIM           = |
-  MedlinePlus    = |
-  eMedicineSubj  = |
-  eMedicineTopic = |
-  MeshID         = D009542 |
-}}
-{{Search infobox}}
-{{CMG}}
-==Overview==
+{{CMG}}; {{AE}} {{CH}}
-'''Niemann-Pick disease''' is an [[autosomal recessive]] disorder affecting [[lipid]] metabolism (the breakdown and use of fats and [[cholesterol]] in the body), in a way which causes harmful amounts of lipids to accumulate in the [[spleen]], [[liver]], [[lungs]], [[bone marrow]], and [[brain]].
-There are three variants of Niemann-Pick disease based on the [[genetics|genetic]] cause and the symptoms exhibited by the patient.
+{{SK}} NPD
-==Genetics==
+'''Type A Niemann-Pick disease''': classical Niemann-Pick disease; Niemann-Pick disease, acute neuronopathic form; sphingomyelin lipidosis; sphingomyelinase deficiency
-Mutations in the [[NPC1]], [[NPC2]], and [[SMPD1]] [[gene]]s cause Niemann-Pick disease.
+'''Type B Niemann-Pick disease''': Niemann-Pick disease, adult non-neuronopathic; Niemann-Pick disease, visceral; Niemann-Pick disease, type E
-This condition is inherited in an [[autosomal recessive]] pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. If both parents are carriers, there is a 25% chance with each pregnancy for an affected child. [[Genetic counseling]] and [[genetic testing]] is recommended for families who may be carriers of Niemann-Pick.
+'''Type C Niemann-Pick disease''': Neurovisceral storage disease with vertical supranuclear ophthalmoplegia; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease without sphingomyelinase deficiency; Niemann-Pick disease, chronic neuronopathic form; Niemann-Pick disease, subacute juvenile form; Niemann-Pick disease, type D; Nova Scotia Niemann-Pick disease
-[[Image:autorecessive.svg|thumb|200px|left|Autosomal recessive inheritence]]
+==[[Niemann-Pick disease overview|Overview]]==
-==Types==
+==[[Niemann-Pick disease historical perspective|Historical Perspective]]==
-===Types A and B===
-Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen ([[hepatosplenomegaly]]), [[failure to thrive]], and progressive deterioration of the [[nervous system]]. Children affected by this condition generally do not survive past early childhood. Niemann-Pick disease, type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is unknown.
-Type B disease may include signs of hepatosplenomegaly, growth retardation, and problems with lung function including frequent [[lung]] infections. Other signs include blood abnormalities such as abnormal cholesterol and lipid levels, and low numbers of [[blood cell]]s involved in clotting ([[platelets]]).  People affected by this type of Niemann-Pick disease usually survive into adulthood. Niemann-Pick disease, type B occurs in all populations.
+==[[Niemann-Pick disease classification|Classification]]==
-Mutations in the SMPD1 gene cause Niemann-Pick disease, types A and B. This gene carries instructions for cells to produce an enzyme called acid [[sphingomyelinase]]. This enzyme is found in the [[lysosomes]] (compartments that digest and recycle materials in the cell), where it processes lipids such as [[sphingomyelin]]. Mutations in this gene lead to a deficiency of acid sphingomyelinase and the accumulation of sphingomyelin, cholesterol, and other kinds of lipids within the cells and tissues of affected individuals.
+==[[Niemann-Pick disease pathophysiology|Pathophysiology]]==
-===Type C===
+==[[Niemann-Pick disease causes|Causes]]==
-Type C is characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone ([[dystonia]]), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.
-Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease, type C. The NPC1 gene produces a [[membrane protein|protein]] that is located in membranes inside the cell and is involved in the movement of cholesterol and lipids within cells. A deficiency of this protein leads to the abnormal build up of lipids and cholesterol within cell membranes. The NPC2 gene produces a protein that binds and transports cholesterol, although its exact function is not fully understood.
+==[[Niemann-Pick disease differential diagnosis|Differentiating Niemann-Pick disease from other Diseases]]==
-===Biochemical Transport===
+==[[Niemann-Pick disease epidemiology and demographics|Epidemiology and Demographics]]==
-The molecular basis for this disease is extremely complex due to the role that [[endosome]] formation has on affected patients.  Recently, three theories have attempted to explain the buildup of cholesterol in the lysosomes of affected patients of Niemann-Pick Disease Type C due to the malfunction of the protein NPC-1.
-* The contention by Neufel et al is that the buildup of [[mannose 6-phosphate receptor]]s (MPRs) in the late endosome suggests that the retrograde breakdown of cholesterol via the Trans [[Golgi]] Network cannot occur.<ref name="npp">{{cite journal |author=Neufeld EB, Wastney M, Patel S, et al |title=The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo |journal=J. Biol. Chem. |volume=274 |issue=14 |pages=9627-9635 |year=1999 |pmid=10092649 |doi=}}</ref>
+==[[Niemann-Pick disease risk factors|Risk Factors]]==
-* Another theory suggests that the blockage of retrograde cholesterol breakdown in the late endosome is due to decreased membrane elasticity and thus the return vesicles of cholesterol to the Trans [[Golgi]] Network cannot bud and form.
+==[[Niemann-Pick disease screening|Screening]]==
-The support of these theories has considerable evidence using mutant proteins [[in vitro]] to determine the buildup of [[cholesterol]] in the [[lysosomes]].  Researchers have also discovered that the NPC-1 protein may function as a pump of cholesterol.<ref name="tmp">{{cite journal |author=Davies JP, Chen FW, Ioannou YA |title=Transmembrane molecular pump activity of Niemann-Pick C1 protein |journal=Science |volume=290 |issue=5500 |pages=2295-2298 |year=2000 |pmid=11125140 |doi=10.1126/science.290.5500.2295}}</ref>
+==[[Niemann-Pick disease natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
-The overall effect of a malfunction in NPC-1 is that low levels or an absence of the protein lead to the abnormal accumulation of lipids and cholesterol in the cells of people with this condition.
+==Diagnosis==
+[[Niemann-Pick disease history and symptoms| History and Symptoms]] | [[Niemann-Pick disease physical examination | Physical Examination]] | [[Niemann-Pick disease laboratory findings|Laboratory Findings]] | [[Niemann-Pick disease electrocardiogram|Electrocardiogram]] | [[Niemann-Pick disease x ray|X Ray]] | [[Niemann-Pick disease CT|CT]] | [[Niemann-Pick disease MRI|MRI]] | [[Niemann-Pick disease ultrasound|Ultrasound]] | [[Niemann-Pick disease other imaging findings|Other Imaging Findings]] | [[Niemann-Pick disease other diagnostic studies|Other Diagnostic Studies]]
-== External links ==
+==Treatment==
-[http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''
+[[Niemann-Pick disease medical therapy|Medical Therapy]] | [[Niemann-Pick disease surgery|Surgery]] | [[Niemann-Pick disease primary prevention|Primary Prevention]] | [[Niemann-Pick disease secondary prevention|Secondary Prevention]] | [[Niemann-Pick disease cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Niemann-Pick disease future or investigational therapies|Future or Investigational Therapies]]
-==References==
+==Case Studies==
-{{reflist}}
+[[Niemann-Pick disease case study one|Case #1]]
-{{Metabolic pathology}}
+==Related Chapters==
+* [[Lysosomal storage disease]]
+* [[Lipid storage disorders]]
+* [[Gaucher's disease]]
+* [[Tay-Sachs disease]]
+* [[Leukodystrophy]]
+* [[Mucopolysaccharidoses]]
+* [[Hunter syndrome]]
+* [[Hurler disease]]
+* [[Mucolipidoses]]
-[[de:Niemann-Pick-Krankheit]]
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-[[es:Enfermedad de Niemann-Pick]]
+[[Category:Neurology]]
-[[it:Malattia di Niemann-Pick]]
-[[ru:Болезнь Ниманна — Пика]]
-[[fi:Niemann–Pickin tauti]]
-[[zh:尼曼匹克症]]
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