Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019158 (hepatitis)
 30,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Long-term follow-up data on young patients receiving amiodarone is lacking, especially in relation to growth and late side effects. The records of 95 young patients (mean age 12.4 years; range 3 weeks to 31.5 years) who received amiodarone were reviewed. Minimal follow-up time for those continuing to take amiodarone was 1.5 years; the mean duration of therapy was 2.3 years (maximal 6.5). The mean maintenance dosage was 7.7 (1.5 to 25) mg/kg body weight per day. Initial success (based on symptoms and 24 h electrocardiogram) was achieved in 23 of 34 patients with ventricular tachycardia, in 32 of 33 with atrial flutter and in 21 of 28 patients with supraventricular tachycardia. However, in 7 of 33 patients with atrial flutter, the arrhythmia returned after 6 months. Patient growth continued in the same percentiles achieved before amiodarone in all but eight patients, improving in six and worsening in two with severe underlying disease. Proarrhythmia occurred in three patients: one had torsade de pointes that disappeared when amiodarone administration was stopped; two with severe anatomic heart disease died suddenly during the loading period (one with atrial flutter and one with ventricular tachycardia). Side effects occurred in 28 (29%) of the 95 patients: keratopathy (in 11), abnormal thyroid function test (in 6), chemical hepatitis (in 3), rash (in 3), peripheral neuropathy (in 2), hypertension (in 1) and vomiting (in 1). All side effects disappeared when amiodarone was discontinued or the dose was reduced.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Long-term follow-up of amiodarone therapy in the young: continued efficacy, unimpaired growth, moderate side effects. 231 68

To define the clinical picture and course of the autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), we report data from our 10-month to 31-year follow-up of 68 patients from 54 families, now 10 months to 53 years of age. The clinical manifestations varied greatly and included from one to eight disease components, 63 percent of the patients having three to five of them. The initial manifestation was oral candidiasis in 41 patients (60 percent), intestinal malabsorption in 6 (9 percent), and keratopathy in 2 (3 percent). All the patients had candidiasis at some time. The earliest endocrine component appeared at 19 months to 35 years of age. Hypoparathyroidism was present in 54 patients (79 percent), adrenocortical failure in 49 (72 percent), and gonadal failure in 15 (60 percent) of the female patients greater than or equal to 13 years of age and 4 (14 percent) of the male patients greater than or equal to 16 years of age. There were multiple endocrine deficiencies in half the patients. From 4 to 29 percent of the patients had periodic malabsorption, gastric parietal-cell atrophy, hepatitis, alopecia, vitiligo, or a combination of these conditions. Dental-enamel hypoplasia and keratopathy were also frequent but were not attributable to hypoparathyroidism. In the patients whose initial manifestation (other than candidiasis) was adrenal failure, the other components developed less often than in the remaining patients. We conclude that the clinical spectrum in patients with APECED is broad. The majority of patients have three to five manifestations, some of which may not appear until the fifth decade. Therefore, all patients need lifelong follow-up for the detection of new components of the disease.
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PMID:Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. 234 35

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the autoimmune regulator (AIRE) gene, which has a central function in maintaining immunological tolerance. A number of conditions with proven or likely autoimmune pathogenesis occur in APECED: hypoparathyroidism, adrenocortical insufficency, candidiasis, hypogonadism, type 1 diabetes, hypothyroidism, hypophysitis, hepatitis, malabsorption, nail dystrophy, enamel hypoplasia and keratopathy. It is not clear which factors are responsible for variation in clinical picture of APECED, but human leukocyte antigen (HLA) genotype may be important. The authors report the first description of a case of primary pulmonary hypertension (PPH) in patient with APECED, caused by R257X mutation in AIRE. The HLA genotype of the patient (DRB1*01/DRB1*11, DQB1*0301/DQB1*0501) has been previously reported as a predisposing factor to PPH. The findings from this study, provided that other similar cases are reported, suggest that immune deregulation plays a role in the pathogenesis of primary pulmonary hypertension.
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PMID:Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome. 1458 26