Familial isolated congenital asplenia
Autoszomális domináns
Absence of the spleen from birth, without other malformations, that greatly increases the risk of serious pneumococcal and other bacterial infections.
Mit változtat a diagnózis
An ultrasound can confirm the absence of a spleen, and vaccination and preventive antibiotics reduce the risk of severe infection.
Vizsgált gének
Más néven
asplenia, isolated congenital; ICAS
