Monday, November 28, 2016

Niemann-Pick Disease information

NiemannPick disease is a disease in which lipid accumulates in reticuloendothelial cells and is inherited as autosomal recessive.
In 1914, a German pediatrician, Albert Niemann, was diagnosed with a patient who died of a brain or nervous system damage before 6 months or before 2 years of age, with symptoms such as bloody liver, spleen, enlarged lymph nodes, swollen, It was first introduced, and in 1927, Luddwick Pick of Germany was first described as a new disease by studying the tissues of patients who died of the same symptoms.
Recently, there are two types of nephropathy associated with the SMPD-1 gene, including type A and type B, and type-C nymphonic disease, caused by NPC1 and NPC2 mutations, depending on the genetic cause of the disease. It is classified into C type and D type.
The incidence of Niemann-Peak sickness in the general population is one in every 100,000 people, but in the case of A type, Ashkenazi jews is one in 40,000 in Jewish people in central and eastern Europe called one of them. Known as the bearer of. Type C is a disease of different biochemistry or genetic background and is present in all races.


[cause]
Type A and B are caused by a mutation in the ASM gene located on chromosome 11 (11p15.1-p15.4) in chromosome 11, and cholesterol metabolism located in chromosome 18 (18q11-12) in chromosome 18 (NPC1) that is involved in the disease.


[Symptom]
Clinical manifestations of Niemann-Pick disease vary widely in all types, and all types are progressive, but different progress rates vary from person to person. Type A, which is called infantile type, is normal at birth, but dietary disorders and dystrophy develop gradually from 1 month old, and respiratory infections are common.
There is a large pelvic girdle showing a hepatic enlargement between 3 and 6 months of age. From 6 months after birth, the eye does not fit, and the neurological symptoms deteriorate due to dystocia, stiffness paralysis, and decreased keystroke. In the brain and spinal cord, accumulation of lipids in the neurons progresses, leading to abnormal changes such as atrophy of the cerebellum, resulting in gait or perineal disorders. This progression leads to death in infancy. Type B, called built-in type, is a chronic disease that develops from the infancy to the liver enlargement or non-enlargement.

[test]
Based on Albert Niemann. Types A and B may be suspected if the activity of ASM is less than 10% of normal in leukocytes and skin tissue of blood cells. The SMPD1 gene is the only gene known to be associated with ASM deficiency, and mutations can be found in 95% of patients with a deficiency in enzyme activity through sequencing.

The diagnosis of type C and D is made by screening the method of staining cholesterol in cultured fibroblasts and then measuring low density cholesterol esterification. In the case of the donor, it is impossible to confirm the result of the biochemical test.


[cure]
There is no definite cure yet. It has been reported that B-type, which has a mild disease progression rather than A-type, has been effective in some patients through hematopoietic stem cell transplantation. Type C and D have no special treatment yet, and low cholesterol diet is recommended. Low cholesterol diet and cholesterol lowering drugs as a drug to prevent some degree of liver lipid deposition is reported, but can slow the progression of central nervous system disease, can not change the metabolism of cholesterol in the cell.

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