在两个无血缘关系的家族中出现孤立的晚发性鼻泪管阻塞。

IF 1.4 Q2 MEDICINE, GENERAL & INTERNAL Rambam Maimonides Medical Journal Pub Date : 2024-01-19 DOI:10.5041/RMMJ.10519
Anat Bahat Dinur, Ortal Buchbut, Libe Gradstein, Baker Elsana, Ofek Freund, Ohad S Birk, Erez Tsumi
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引用次数: 0

摘要

晚期鼻泪管阻塞(NLDO)是炎症过程导致的泪腺增生症的一种常见病,女性患者居多。虽然有一些机制被认为是导致 NLDO 的因素,但炎症的诱因大多仍不清楚。以前还没有报道过这种疾病的家族遗传倾向。我们介绍了两个有多人患有先天性或晚发性 NLDO 的家族,描述了患者的体征和症状,并探究了他们的病史中是否有任何诱发因素。家族 A 共有四代人,其中包括 7 名受晚发性 NLDO 影响的女性患者。家族 B 有两代人,其中 8 人患有先天性或晚发性 NLDO。这一系列病例表明,NLDO 具有家族易感性,显然是常染色体显性遗传模式。要阐明这种遗传易感性的分子基础,还需要进一步的研究。
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Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families.

Late-onset nasolacrimal duct obstruction (NLDO) as a result of inflammatory processes causing dacryo-stenosis is a common entity affecting mostly women. While a few mechanisms have been suggested as contributors to the expression of NLDO, the trigger for the inflammation remains mostly unknown. Familial predilection for this condition has not been previously reported. We present two families with multiple individuals affected with congenital or late-onset NLDO, describe the signs and symptoms of the affected individuals, and explore their medical history for any contributing factors. Family A, spanning four generations, included 7 female patients affected by late-onset NLDO. Family B, spanning two generations, included 8 individuals affected by either congenital or late-onset NLDO. This case series suggests a familial predisposition to NLDO, apparently with an autosomal dominant inheritance pattern. Further studies are needed to elucidate the molecular basis of this genetic predisposition.

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来源期刊
Rambam Maimonides Medical Journal
Rambam Maimonides Medical Journal MEDICINE, GENERAL & INTERNAL-
CiteScore
3.20
自引率
6.70%
发文量
55
审稿时长
8 weeks
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