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孤立性先天性泪腺发育不全

Isolated Congenital Lacrimal Gland Agenesis.

作者信息

Belge Bilgin Gokce, Bilgin Cem, Orscelik Atakan, Musmar Basel, Kandemirli Sedat G

机构信息

Department of Radiology, Mayo Clinic, Rochester, USA.

Department of Neurological Surgery, University of California San Francisco, San Francisco, USA.

出版信息

Cureus. 2024 Apr 6;16(4):e57732. doi: 10.7759/cureus.57732. eCollection 2024 Apr.

DOI:10.7759/cureus.57732
PMID:38711697
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11070891/
Abstract

Congenital alacrima is an uncommon condition marked by a lack of tear production that is present from birth. This condition often occurs in conjunction with various syndromes but can also result from isolated lacrimal gland agenesis. Congenital alacrima should be evaluated in the differential diagnosis for pediatric patients presenting with symptoms of dry eyes, especially in cases without xerostomia or other systemic rheumatologic findings. Following a thorough history and examination, noninvasive imaging techniques can be utilized to assess for potential lacrimal gland agenesis and aid in confirming the diagnosis.

摘要

先天性无泪症是一种罕见的病症,其特征为自出生起就缺乏泪液分泌。这种病症常与多种综合征并发,但也可能由孤立的泪腺发育不全引起。对于出现干眼症状的儿科患者,尤其是没有口干或其他系统性风湿病学表现的病例,在鉴别诊断时应考虑先天性无泪症。经过全面的病史询问和检查后,可采用非侵入性成像技术来评估潜在的泪腺发育不全情况,并协助确诊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22b/11070891/80d585d219f0/cureus-0016-00000057732-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22b/11070891/f10ef4ba5708/cureus-0016-00000057732-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22b/11070891/80d585d219f0/cureus-0016-00000057732-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22b/11070891/f10ef4ba5708/cureus-0016-00000057732-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22b/11070891/80d585d219f0/cureus-0016-00000057732-i02.jpg

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本文引用的文献

1
Congenital alacrima.先天性无泪症。
Orbit. 2022 Apr;41(2):162-169. doi: 10.1080/01676830.2021.1974057. Epub 2021 Sep 5.
2
Isolated bilateral congenital lacrimal gland agenesis - Report of two cases.孤立性双侧先天性泪腺发育不全——两例报告
Saudi J Ophthalmol. 2017 Oct-Dec;31(4):257-259. doi: 10.1016/j.sjopt.2017.04.008. Epub 2017 May 3.
3
Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.奥尔格罗夫综合征中AAAS基因突变的鉴定:三例报告。
Exp Ther Med. 2015 Oct;10(4):1277-1282. doi: 10.3892/etm.2015.2677. Epub 2015 Aug 10.
4
Unilateral Congenital Lacrimal Gland Agenesis With Contralateral Lacrimal Gland Hypoplasia.单侧先天性泪腺缺如伴对侧泪腺发育不全
J Pediatr Ophthalmol Strabismus. 2015 Oct 15;52 Online:e52-4. doi: 10.3928/01913913-20151007-11.
5
Hereditary disorders affecting the lacrimal system.影响泪器系统的遗传性疾病。
Curr Opin Ophthalmol. 2014 Sep;25(5):424-31. doi: 10.1097/ICU.0000000000000092.
6
Isolated form of congenital bilateral lacrimal gland agenesis.先天性双侧泪腺缺如的孤立形式。
Indian J Ophthalmol. 2011 Nov-Dec;59(6):522-3. doi: 10.4103/0301-4738.86333.
7
Case report: aplasia of the lacrimal and major salivary glands (ALSG).病例报告:泪腺和主要唾液腺发育不全(ALSG)
Int J Pediatr Otorhinolaryngol. 2009 Jun;73(6):899-901. doi: 10.1016/j.ijporl.2009.03.004. Epub 2009 Apr 18.
8
Congenital alacrima in a patient with blepharophimosis syndrome.睑裂狭小综合征患者的先天性无泪症。
Ophthalmic Genet. 2009 Mar;30(1):37-9. doi: 10.1080/13816810802452176.
9
Isolated unilateral congenital lacrimal gland agenesis presenting as filamentary keratopathy in a child.
Cornea. 2009 Jan;28(1):87-8. doi: 10.1097/ICO.0b013e3181814ca9.
10
Eye blink in newborn and preschool-age children.新生儿和学龄前儿童的眨眼
Acta Ophthalmol. 2008 May;86(3):275-8. doi: 10.1111/j.1600-0420.2007.00969.x. Epub 2007 Nov 7.