805 Familial Lipoprotein Lipase Deficiency

被引：0

作者：

S Penava

A Bajraktarevic

A Selimovic

D Abduzaimovic

J Musabegovic

T Frankic

A J Causevic

S Korac

A D Djulepa

H Boloban

机构：

[1] Pediatrics Department,General Pediatrics Department

[2] Public Health Institution of Canton Sarajevo-Pediatrics Department,Biochemistry Department

[3] Pediatrics Clinic Sarajevo,Biochemistry Department

[4] Private Biochemistry Laboratory Tesanj,Perinatology Department

[5] Clinical Pharmacology Department,Perinatology Department

[6] Pharmaceutical faculty Sarajevo,undefined

[7] General Hospital Sarajevo,undefined

[8] Clinical Medical Center Sarajevo,undefined

来源：

Pediatric Research | 2010年 / 68卷

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摘要：

Background: Mutations in the LPL gene cause familial lipoprotein lipase deficiency. Symptoms of familial LPL deficiency usually begin in childhood and include abdominal pain, acute and recurrent inflammation of the pancreas, skin lesions called eruptive cutaneous xanthoma and an enlargement of the liver and spleen. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy.

引用

页码：405 / 405