Two Siblings with Familial Chylomicronemia Syndrome: Disease Course and Effectiveness of Early Treatment
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چکیده
منابع مشابه
Two Siblings with Familial Chylomicronemia Syndrome: Disease Course and Effectiveness of Early Treatment
There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in very young children. The authors report a family with two male siblings, 7 and 4 years old, affected by familial hyperchylomicronemia. The oldest was diagnosed at birth during evaluation of jaundice, and the youngest showed asymptomatic hypertriglyceridemia by 6 months of age. Due to high tr...
متن کاملTwo Case Reports of Familial Chylomicronemia Syndrome
Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.
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A 21-year-old adult with previously diagnosed Marfan syndrome (MS) was admitted to our hospital complaining of chest pains that resulted from a complete left spontaneous pneumothorax (SP). A chest roentgenogram showed a 70% pneumothorax on the left side. Because for 8 days chest tube drainage did not ameliorate the air leak, and also because a computed tomography (CT) scan showed many cystic op...
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Parkinson’s disease (PD) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. Age at onset in a small subset of PD cases is considerably lower, and these are considered early-onset PD (EOPD) patients. Most PD cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit Mendelian inheritance. Genetic analysis of fami...
متن کاملRecurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome.
The chylomicronemia syndrome is well recognized as a rare etiologic factor of acute pancreatitis; however, whether hypertriglyceridemia can cause chronic pancreatitis (CP) remains unclear. We describe the long-time course of 2 brothers with the familial chylomicronemia syndrome caused by identical compound heterozygous mutations in the lipoprotein lipase (LPL) gene with markedly reduced LPL act...
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ژورنال
عنوان ژورنال: Case Reports in Medicine
سال: 2010
ISSN: 1687-9627,1687-9635
DOI: 10.1155/2010/807434