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Summary
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (PASNA)
APA WITH SEIZURES AND NEUROLOGICAL ABNORMALITIES
615474
OMIM = Online Medalian Inheritance of Men
369929
3p21.1
rare
autosomal dominant
mutation in the CACNA1D gene
symptoms
abnormal movement
athetosis
behavior, abnormal or bizarre, confusion
blindness, visual loss, visual impairment
developmental delay
heart involvement
hyperaldosteronism
hypertension
hypokalemia
metabolic alkalosis
onset, infancy
onset, neonatal
pulmonary hypertension
seizures
spastic diplegia/quadriplegia/tetraplegia
urolithiasis, kidney stones
ventricular septal defect
laboratory finding
Aldosterone plasma
Aldosterone/renin ratio no uniturine
Renin activity (PRA) or renin plasma
Literature
Gopalakrishnan N,et al.Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney DiseaseJ Assoc Physicians India641090-912016
Shamburek RD,et al.Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacementJ Clin Lipidol102356-3672016