Hereditary Angiopathy, with Nephropathy, Aneurysms, and Muscle Cramps (HANAC)
摘要
Hereditary angiopathy, with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome, is an uncommon genetic disorder with autosomal dominant inheritance that results in abnormalities in the vasculature of several organ systems, comprising brain, kidneys, muscle, and retina (Jordan et al. 2019). Plaisier et al. documented a four-generation Caucasian French descendant overwhelmed by retinal arteriolar tortuosities, muscular contractures, and hematuria (Plaisier et al. 2005). Later, they distinguished renal and extrarenal phenotypes of patients from three families with HANAC syndrome. Renal manifestations included hematuria, bilaterally enlarged kidney cysts, and asymptomatic diminished glomerular filtration rate. On the other hand, complex basement membrane defects in the kidney and skin, muscle cramps and increased creatine kinase level, retinal arteriolar tortuosity causing retinal hemorrhages, cardiac arrhythmia, Raynaud phenomenon, and leukoencephalopathy on several brain scans were among extrarenal signs. Subjects suffering from HANAC syndrome typically begin to manifest symptoms at 40–60 years of age (Alamowitch et al. 2009). Additionally, central nervous system radiographic findings of the affected individuals developed by their 40 s included T2 white matter hyperintensities, ischemic or hemorrhagic stroke, and carotid siphon aneurysms.