A TREX1 polymorphism, a V2 loop extension in gp120 and reduced replicative fitness in viremic non-progressors help explain differing speeds of HIV-1 disease.
Absent cerebral hemispheres replaced by fluid-filled sacs, alongside genital anomalies, call for physical examination, imaging and chromosomal microarray analysis.
L1CAM mutations on the X chromosome bring fluid buildup in the brain alongside obstruction-like bowel symptoms with no blockage. MRI, motility and DNA tests all help.
Persistently high eosinophil levels with no known cause define IHES. The page covers symptoms, diagnosis, FIP1L1-PDGFRA testing and options when imatinib fails.
Elevated prorenin, the precursor of renin, is often found by chance on blood tests in this inherited condition. The specific genes are not yet identified.
Diastolic readings that stay above 80 mm Hg strain the heart and vessels. Contributing factors, diagnosis and what genetic testing may add are set out.
Family history, first pregnancy, age over 30 and anemia all raise the odds of pregnancy-induced hypertension. Gene variants and the limits of testing are weighed.
Blood pressure that stays high despite several medicines defines resistant hypertension. The eNOS Glu298Asp polymorphism, testing and drug options are discussed.