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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/13 07:26:34」(JST)

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Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis"^[1]^:545) is an extremely rare (80 cases reported worldwide to this day^[2]) autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. Normally, the enzyme ceramidase breaks down fatty material in the body’s cells. In Farber Disease, the gene responsible for making this enzyme is mutated. Hence, the fatty material is never broken down and, instead, accumulates in various parts of the body, leading to the signs and symptoms of this disorder.

Diagnosis and symptoms

Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber disease develop symptoms within the first few weeks of life. These symptoms may include moderately impaired mental ability and problems with swallowing. The liver, heart and kidneys may also be affected. Other symptoms may include vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures (chronic shortening of muscles or tendons around joints), hoarseness and xanthomas which thicken around joints as the disease progresses. Patients with breathing difficulty may require a breathing tube.

Prognosis

Most children with Farber disease die by age 2, usually from lung disease. In one of the most severe forms of the disease, an enlarged liver and spleen (hepatosplenomegaly) can be diagnosed soon after birth. Children born with this form of the disease usually die within 6 months.

Treatment

There is no specific treatment for Farber disease. Corticosteroids may be prescribed to relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on patients with little or no lung or nervous system complications. Older patients may have granulomas surgically reduced or removed.

Eponym

It is named for Sidney Farber.^[3]^[4]

Genetics

It is associated with a deficiency in ASAH1.^[5]

External links

Hide & Seek Foundation For Lysosomal Disease Research

References

^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ http://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis
^ synd/453 at Who Named It?
^ Farber S (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease". A.M.A. American journal of diseases of children 84 (4): 499–500. PMID 12975849.
^ Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M (2006). "Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family". J. Hum. Genet. 51 (9): 811–4. doi:10.1007/s10038-006-0019-z. PMID 16951918.

Lippincott's illustrated biochemistry, 4th edition

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English Journal

Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.

Sikora J1, Dworski S2, Jones EE3, Kamani MA4, Micsenyi MC5, Sawada T5, Le Faouder P6, Bertrand-Michel J6, Dupuy A6, Dunn CK4, Xuan IC7, Casas J8, Fabrias G8, Hampson DR7, Levade T9, Drake RR3, Medin JA10, Walkley SU11.
The American journal of pathology.Am J Pathol.2017 Apr;187(4):864-883. doi: 10.1016/j.ajpath.2016.12.005.
PMID 28342444

This Month in AJP.

[No authors listed]
The American journal of pathology.Am J Pathol.2017 Apr;187(4):695. doi: 10.1016/j.ajpath.2016.12.024. Epub 2017 Feb 20.
The following highlights summarize research articles that are published in the current issue of The American Journal of Pathology.Copyright © 2017 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.
PMID 28219647

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Kim SY1, Choi SA1, Lee S2, Lee JS3, Hong CR4, Lim BC1, Kang HJ4, Kim KJ1, Park SH5, Choi M1,2, Chae JH6.
American journal of medical genetics. Part A.Am J Med Genet A.2016 Nov;170(11):3023-3027. doi: 10.1002/ajmg.a.37846. Epub 2016 Jul 13.
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Japanese Journal

Farber′s Disease(Disseminated Lipogranulomatosis)--A Pathological,Histochemical and Ultrastructural Study

Acta Pathologica Japonica 29(1), p135-155, 1979-01
NAID 40005321671

Farber's disease (disseminated lipogranulomatosis): the first case reported in Japan.

Acta Medica Okayama 32(1), 1978-04
NAID 120002313209

「ファーバー病」

Farber disease
Classification and external resources
Specialty	endocrinology
ICD-10	E75.2 (ILDS E75.240)
ICD-9-CM	272.8
OMIM	228000
DiseasesDB	29174
MeSH	D055577
	[edit on Wikidata]