Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial glucocortivoid insufficiency--also called hereditary lack of response of the adrenals to ACTH-has not yet been described in Europe. Isolated glucocorticoid insufficiency combined with intact secretion of aldosterone and high plasma level of ACTH are characteristic. The diagnostic difficulties are demonstrated by the deaths before diagnosis of 13 siblings of 21 patients from 9 families. One such family is described. The first of 3 children died at the age of 3-1/2 years after a two day illness interpreted as encephalitis. Another boy, aged 4-1/2 years, had a hypoglycemic attack. 3 months later he died in status epilepticus after a short feverish illness. At autopsy the adrenals were very small. Histologically only the glomerulous zone was developed. An the hypophysis there was hyperplasia of the R cells producing ACTH. The 6 year old sister had been pronouncedly pigmented from the age of a few months onwards. Age in terms of height and bone development corresponded to 8-1/2 and 7-1/2 years. After intravenous insulin and synacthen plasmacorticoids could not be found. With normal and low supply of salt, the following data were found: Renin-activity 2.9 and 5.6 ng/ml p.h. respectively; rate of aldosterone secretion 62.6 and 151.5 mug/24 hrs.; average aldosterone plasma concentration 9.39 and 27.7 ng/100 ml respectively; MCR 666 and 5471 p/24 hrs. Plasma ACTH in this patient (5086--7200 pg/ml) and, post mortem, in her brother (8100 pg/ml), were extremely reaised.
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PMID:[Familial glucocorticoid insufficiency (author's transl)]. 17 70

Typical causes of renovascular hypertension include intramural atherosclerotic lesions of the main renal arteries or their branches and fibromuscular dysplasia of the renal arterial wall with luminal narrowing. We report a patient with new-onset, accelerated hypertension (blood pressure 220/140 mm Hg, status epilepticus, retinal hemorrhages) secondary to a dissection of the anterior division of the right renal artery that was accompanied by hyperreninemia, hyperaldosteronism, and hypokalemia. At presentation in the untreated state, unstimulated plasma renin activity and the serum aldosterone level were markedly elevated. Following right nephrectomy, blood pressure levels normalized without antihypertensive therapy, and plasma renin activity, serum aldosterone and potassium levels normalized. Histologic study of the right renal artery showed an isolated dissection of the anterior branch of the vessel between the muscularis and adventitia that created marked reduction in luminal diameter and renal ischemia. There was no evidence of any other vascular abnormalities, atherosclerosis, or fibromuscular dysplasia. These findings demonstrate that an isolated dissection of a branch of the renal artery may induce profound hyperreninemia and represents a rare, reversible etiology for accelerated hypertension associated with acute encephalopathy.
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PMID:Accelerated hypertension with encephalopathy due to an isolated dissection of a renal artery branch vessel. 820 71

We report on the first Chinese patient with triple-A syndrome, who presented at 22 months with status epilepticus secondary to hyponatraemia and hypoglycaemia. Subsequent endocrine investigations confirmed primary adrenal insufficiency and aldosterone deficiency. In the presence of achalasia and alacrima, this patient satisfies the diagnostic criteria of triple-A syndrome. Further molecular testing detected compound heterozygous mutations in the AAAS gene: a c.580C --> T transition in exon 7 and a c.771delG single nucleotide deletion in exon 8. Testing of parents and brother confirmed their heterozygous carrier status.
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PMID:Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene. 1678 45