Farber's disease ( Farber's syndrome , also Farber's lipogranulomatosis , ceramidase deficiency , fibrocytic dismupo polysaccharidosis and lipogranulomatosis [1] ) is a very rare disease with an autosomal recessive mode of inheritance from the group of lysosomal storage disorders . The deficiency of the enzyme lysosome ceramidase, splitting fats , contributes to the accumulation of ceramide inside the cells . In the case of Farber's disease, as a result of mutation, the gene encoding ceramidase was changed, which leads to disruption of lipid metabolism and the accumulation of ceramide inside cells in various organs and tissues of the body . Clinically, signs of this disorder manifest pathology of the joints , liver , throat , central nervous system, and so on.
| Farber's Disease | |
|---|---|
| ICD-10 | E 75.2 ( ILDS E75.240) |
| ICD-9 | 272.8 |
| OMIM | 228,000 |
| DiseasesDB | 29174 |
| Mesh | D055577 |
Content
Eponym
The disease is named after the American oncologist , pathologist and pediatrician Sidney Farber [2] [3] , who first described it in 1952.
Inheritance
The disease is associated with impaired activity of the ASAH1 gene [4] .
Clinical picture
The disease usually occurs in early childhood. Occasionally found in the later. In children with the classic form of Farber's disease, symptoms appear already in the first weeks of life - problems with swallowing occur, mental abilities are moderately impaired. Liver , heart, and kidney may be affected. Other symptoms include vomiting , arthritis , swollen lymph nodes and swelling of the joints , development of contracture (as a result of muscle spasm and tendons around the joints),dysphonia and xanthomas accumulated on the joints when the disease progresses. In the case of respiratory distress, tracheal intubation is indicated to patients.
Treatment
There is no reliable treatment for Farber's disease. Corticosteroids can be prescribed as a painkiller. Thanks to bone marrow transplantation, granulomas (small nodules of inflamed tissue) are absorbed in patients with minimal impairment of lung function and nervous system . In older patients, surgical removal of the granuloma is possible.
Forecast
Most children with Farber's disease die at the age of two, predominantly from pulmonary ailments. One of the most severe forms of the disease, when the liver and spleen is enlarged (hepato splenomegaly ), can be diagnosed shortly after birth. Such children die an average of six months.
See also
- Lysosomal storage diseases
Notes
- ↑ James, William D .; Berger, Timothy G .; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0 (English)
- ↑ Whonamedit? (eng.)
- ↑ Farber S. (1952). “A lipid metabolic disorder: disseminated lipogranulomatosis; a Niemann-Pick and a Hand-Schüller-Christian disease. AMA American Journal of Diseases of Children 84 (4): 499-500. PMID 12975849 (Eng.)
- ↑ Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M (2006). “Farber lipogranulomatosis: a clinical and molecular genetic analysis reveals a novel family of an Indian family.” J. Hum. Genet. 51 (9): 811-4. doi: 10.1007 / s10038-006-0019-z . PMID 16951918 (English)