Annals of internal medicine · 2001
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Simon A, Cuisset L, Vincent M F, van Der Velde-Visser S D, Delpech M, van Der Meer J W, Drenth J P
Аннотация
BACKGROUND: The hyper-IgD and periodic fever syndrome (HIDS) is characterized by recurrent attacks of fever, abdominal distress, and arthralgia and is caused by mevalonate kinase mutations.
OBJECTIVE: To ascertain the role of mevalonate kinase and the usefulness of molecular diagnosis in HIDS.
DESIGN: Cross-sectional study.
SETTING: The international Nijmegen HIDS registry.
PATIENTS: 54 patients from 41 families who met the clinical criteria for HIDS.
MEASUREMENTS: Clinical symptoms and signs, immunoglobulin concentration, leukocyte count, erythrocyte sedimentation rate, mutation analysis, and mevalonate kinase enzyme activity assay.
RESULTS: There were two groups of patients: 41 patients with mevalonate kinase mutations (classic-type HIDS) and 13 patients without mutations (variant-type HIDS). Patients with classic-type HIDS had a lower mevalonate kinase enzyme activity, a higher IgD level, and more additional symptoms with attacks. The IgD level did not correlate with disease severity, mevalonate kinase enzyme activity, or genotype.
CONCLUSION: Genetic heterogeneity exists among patients with a clinical diagnosis of HIDS.
OBJECTIVE: To ascertain the role of mevalonate kinase and the usefulness of molecular diagnosis in HIDS.
DESIGN: Cross-sectional study.
SETTING: The international Nijmegen HIDS registry.
PATIENTS: 54 patients from 41 families who met the clinical criteria for HIDS.
MEASUREMENTS: Clinical symptoms and signs, immunoglobulin concentration, leukocyte count, erythrocyte sedimentation rate, mutation analysis, and mevalonate kinase enzyme activity assay.
RESULTS: There were two groups of patients: 41 patients with mevalonate kinase mutations (classic-type HIDS) and 13 patients without mutations (variant-type HIDS). Patients with classic-type HIDS had a lower mevalonate kinase enzyme activity, a higher IgD level, and more additional symptoms with attacks. The IgD level did not correlate with disease severity, mevalonate kinase enzyme activity, or genotype.
CONCLUSION: Genetic heterogeneity exists among patients with a clinical diagnosis of HIDS.