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1
Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report.下颌发育不全、耳聋、早老样特征、脂肪营养不良综合征患者的麻醉管理：一例报告
JA Clin Rep. 2024 Oct 10;10(1):64. doi: 10.1186/s40981-024-00747-8.
2
A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient.一名中国患者存在下颌发育不全、耳聋、类早衰特征和脂肪营养不良综合征，可能与其 POLD1 变异有关。
BMC Med Genomics. 2022 Oct 21;15(1):220. doi: 10.1186/s12920-022-01374-x.
3
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.由POLD1基因反复新发突变引起的下颌发育不全、耳聋、早老样特征和脂肪营养不良（MDPL）综合征的确诊
Endocr J. 2018 Feb 26;65(2):227-238. doi: 10.1507/endocrj.EJ17-0287. Epub 2017 Dec 2.
4
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).外显子组测序揭示了一种新发的POLD1突变，该突变导致下颌骨发育不全、耳聋、早老样特征和脂肪营养不良综合征（MDPL）的表型变异。
Metabolism. 2017 Jun;71:213-225. doi: 10.1016/j.metabol.2017.03.011. Epub 2017 Mar 28.
5
A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome.一个患有沃纳综合征的家族中与下颌发育不全、耳聋、早老样特征和脂肪营养不良综合征相关的新发突变
J Investig Med High Impact Case Rep. 2018 Jul 12;6:2324709618786770. doi: 10.1177/2324709618786770. eCollection 2018 Jan-Dec.
6
Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1.MDPL 综合征患儿至成年期的临床描述，该综合征由 POLD1 中的新型变异引起。
Eur J Med Genet. 2021 Dec;64(12):104333. doi: 10.1016/j.ejmg.2021.104333. Epub 2021 Sep 10.
7
Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.在一位患有下颌发育不全、耳聋、早老样特征（MDPL）综合征的脂肪营养不良患者中鉴定出聚合酶 delta1（POLD1）基因的一种新突变。
Metabolism. 2014 Nov;63(11):1385-9. doi: 10.1016/j.metabol.2014.07.010. Epub 2014 Jul 25.
8
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman.下颌发育不全、耳聋、早衰特征和脂肪营养不良综合征的临床表现不断演变：一位 31 岁女性从婴儿期到成年期的表现。
Am J Med Genet A. 2021 Mar;185(3):995-998. doi: 10.1002/ajmg.a.62035. Epub 2020 Dec 23.
9
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.遗传性脂肪营养不良中下颌骨发育不良、耳聋、早衰特征和脂肪营养不良（MDPL）综合征。
Metabolism. 2015 Nov;64(11):1530-40. doi: 10.1016/j.metabol.2015.07.022. Epub 2015 Aug 1.
10
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via mutation detection.首例通过突变检测诊断出患有下颌骨发育不全、耳聋、早老样特征和脂肪营养不良的日本患者。
Hum Genome Var. 2017 Aug 3;4:17031. doi: 10.1038/hgv.2017.31. eCollection 2017.

本文引用的文献

1
From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging.从线索到意义：POLD1基因在DNA复制、修复及衰老过程中的作用
Mech Ageing Dev. 2023 Apr;211:111790. doi: 10.1016/j.mad.2023.111790. Epub 2023 Feb 9.
2
A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient.一名中国患者存在下颌发育不全、耳聋、类早衰特征和脂肪营养不良综合征，可能与其 POLD1 变异有关。
BMC Med Genomics. 2022 Oct 21;15(1):220. doi: 10.1186/s12920-022-01374-x.
3
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.一位新发错义变异的 Cys-B 区 POLD1 患者出现轻度 MDPL。
Eur J Hum Genet. 2022 Aug;30(8):960-966. doi: 10.1038/s41431-022-01118-6. Epub 2022 May 20.
4
The enigma of persistent hypertriglyceridemia: A case report.持续性高甘油三酯血症之谜：一例报告。
Clin Case Rep. 2022 Mar 23;10(3):e05610. doi: 10.1002/ccr3.5610. eCollection 2022 Mar.
5
Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1.MDPL 综合征患儿至成年期的临床描述，该综合征由 POLD1 中的新型变异引起。
Eur J Med Genet. 2021 Dec;64(12):104333. doi: 10.1016/j.ejmg.2021.104333. Epub 2021 Sep 10.
6
Mutations Involved in Premature-Ageing Syndromes.与早衰综合征相关的突变
Appl Clin Genet. 2021 Jun 2;14:279-295. doi: 10.2147/TACG.S273525. eCollection 2021.
7
Eye pain and blurred vision as main complaints in a new case with MDPL syndrome.以眼痛和视力模糊为主要症状的新 MDPL 综合征病例。
Eur J Ophthalmol. 2022 Sep;32(5):NP82-NP86. doi: 10.1177/11206721211009179. Epub 2021 Apr 16.
8
Functional analysis of p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity.p.Ser605del 变异体的功能分析：MDPL 综合征的衰老表型与 DNA 修复能力受损有关。
Aging (Albany NY). 2021 Feb 22;13(4):4926-4945. doi: 10.18632/aging.202680.
9
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman.下颌发育不全、耳聋、早衰特征和脂肪营养不良综合征的临床表现不断演变：一位 31 岁女性从婴儿期到成年期的表现。
Am J Med Genet A. 2021 Mar;185(3):995-998. doi: 10.1002/ajmg.a.62035. Epub 2020 Dec 23.
10
A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.一名通过POLD1突变检测诊断为患有下颌发育不全、耳聋、早老样特征和脂肪营养不良（MDPL）的中国女孩。
Chin Med J (Engl). 2020 Aug 20;133(16):2009-2011. doi: 10.1097/CM9.0000000000000986.

下颌发育不全、耳聋、早老样特征、脂肪营养不良综合征患者的麻醉管理：一例报告

Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report.

作者信息

Sekiguchi Ryo, Kinoshita Michiko, Sakai Yoko, Tanaka Katsuya

机构信息

Department of Anesthesiology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-8-15 Kuramoto-Cho, Tokushima-Shi, Tokushima, 770-8503, Japan.

Department of Anesthesiology, Tokushima University Hospital, Tokushima, 2-50-1 Kuramoto-Cho, Tokushima-Shi, Tokushima, 770-8503, Japan.

出版信息

JA Clin Rep. 2024 Oct 10;10(1):64. doi: 10.1186/s40981-024-00747-8.

DOI:10.1186/s40981-024-00747-8
PMID:39388000
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11466922/
Abstract

BACKGROUND

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder that presents unique challenges for anesthetic management due to its multisystemic manifestations. This report outlines the anesthetic considerations for MDPL patients based on our case experience.

CASE PRESENTATION

A 15-year-old male with MDPL syndrome underwent testicular extraction under general anesthesia. Insertion of a peripheral venous catheter was challenging due to scleroderma-like skin. Although the facial features of MDPL syndrome suggested a difficult airway, intubation with a McGrath™ Mac video laryngoscope was successful. Despite MDPL syndrome's association with hypertriglyceridemia due to lipodystrophy, this patient's triglyceride levels were normal. Thiamylal and sevoflurane were used without issues such as delayed emergence from anesthesia.

CONCLUSIONS

MDPL syndrome requires careful preoperative assessment and tailored anesthetic management due to potential airway challenges arising from its distinctive facial features and the possibility of altered anesthetic pharmacokinetics associated with lipodystrophy.

摘要

背景

下颌发育不全、耳聋、早老样面容和脂肪营养不良（MDPL）综合征是一种罕见的常染色体显性疾病，因其多系统表现，给麻醉管理带来了独特挑战。本报告基于我们的病例经验，概述了MDPL患者的麻醉注意事项。

病例介绍

一名患有MDPL综合征的15岁男性在全身麻醉下接受睾丸摘除术。由于类似硬皮病的皮肤，外周静脉导管的插入具有挑战性。尽管MDPL综合征的面部特征提示气道困难，但使用麦格拉斯™ Mac视频喉镜插管成功。尽管MDPL综合征因脂肪营养不良与高甘油三酯血症有关，但该患者的甘油三酯水平正常。硫喷妥钠和七氟醚的使用未出现诸如麻醉苏醒延迟等问题。

结论

由于MDPL综合征独特的面部特征可能带来气道挑战，以及脂肪营养不良可能改变麻醉药的药代动力学，因此需要进行仔细的术前评估并制定个性化的麻醉管理方案。