m+Medelevator.RU
← Поиск публикаций
La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris · 1975

[Chronic tubulo-interstitial nephropathy and tapetal-retinal degeneration. Senior's syndrome?].

Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

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.

André J L, Afflalo G, Duprez A, Kifffer B, Neimann N

Аннотация

Following Contreras and Espinoza in 1960, Senior and Loken, in 1961, described a new familial entity in which were associated renal and eye involvement in addition to Alport and Lowe's syndromes. About 30 cases of this syndrome have been reported until now. We report here a new case discovered with very advanced renal failure. No metabolic or enzymatic abnormality of the lysosomes was discovered. The family history and an investigation of the parents and six other siblings, did not reveal any similar case. Frequency of the morbid association, interstitial nephritis and retinal degeneration, is definitely underestimated. It raises numerous problems concerning the hereditary causes and the metabolic nature of both conditions, together with its place in classification of tubulo-interstitial nephritis described under the term of nephronophtisis. In practice, recognition of this association should permit early detection of the various components and assessment of the prognosis and family risk.

Предметные рубрики MeSH