Familial isolated congenital asplenia
Autozomálně dominantní
Absence of the spleen from birth, without other malformations, that greatly increases the risk of serious pneumococcal and other bacterial infections.
Co se diagnózou změní
An ultrasound can confirm the absence of a spleen, and vaccination and preventive antibiotics reduce the risk of severe infection.
Analyzované geny
Známé také jako
asplenia, isolated congenital; ICAS
