Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

IIAC is a rare cardiovascular disease characterized by calcification of the membrana elastica interna and intimal proliferation in smaller and bigger arteries. This report describes a premature infant of 36 week gestational age with IIAC, which developed a hypertrophic-obstructive cardiomyopathia, acute renal failure and renovascular hypertension due to complete occlusion of both renal arteries, and eventually died at an age of 85 days. To date 86 cases of IIAC have been published. In 42 patients whose case records have been reported since 1960, cardiac failure and myocardial ischemia or infarction were the most commun clinical signs. In 54% of cases the electrocardiogramm showed myocardial ischemia. Characteristically neonates or young infants were affected by this disease, the mean onset of symptoms was 2 months, the mean time of survival was 4.2 month of age. Coronary arteries were calcified in 85% of cases; in addition, typical morphological changes were found in the arteries of lung, kidney, extremities, mesenterium, spleen, brain and the aorta. Extravascular calcification (kidney, soft tissue) could be demonstrated in 37% of the patients. The etiology of this rare disease is unknown.
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PMID:[Idiopathic infantile arterial calcinosis. A rare cardiovascular disease of uncertain etiology--case report and review of the literature]. 156 5

In generalized arterial calcification of infancy (OMIM no. 208000), calcification of the media and proliferation of the intima lead to arterial stenoses. Most affected patients present with untreatable arterial hypertension and die within the first months of life. The disease has recently been linked to mutations in ENPP1. We report two siblings with prolonged survival, both of whom carry the compound heterozygous ENPP1 mutations c.913C>A and c.1164+2T>A. In both siblings, spontaneous regression of arterial calcifications occurred, and antihypertensive treatment could be tapered off gradually. In some patients, the natural course of GACI may be more favourable than previously assumed.
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PMID:Generalized arterial calcification of infancy: two siblings with prolonged survival. 1631 58