Rare Endocrinology News
5 Facts you should know about
Niemann-Pick disease type B
1
Type B patients also show hepatosplenomegaly and pathologic alterations of their lungs but usually without central nervous system involvement
2
Signs and symptoms typically develop in the pre-teen years and may include hepatosplenomegaly, short stature, frequent lung infections, and thrombocytopenia
3
Some patients develop coronary artery or valvular heart disease
4
In a longitudinal natural history study, nearly 20% of the patients died
5
Mutations in the SMPD1 gene cause Niemann–Pick disease type B
Rare Endocrinology News
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