Suppr超能文献

迪格维-梅尔基奥尔-克劳森综合征使用生长激素的一例病例

A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome.

作者信息

Upadhyay Ravi, Ruane Claire, Umans Rachel, Pletcher Beth A, Khokhar Aditi, Wong Kristin

机构信息

Departments of Medicine and Pediatrics, Rutgers University New Jersey Medical School, Newark, NJ, USA.

Department of Pediatrics, Rutgers University New Jersey Medical School, Newark, NJ, USA.

出版信息

Case Rep Endocrinol. 2022 Mar 15;2022:8542281. doi: 10.1155/2022/8542281. eCollection 2022.

Abstract

Short stature has many causes including genetic disease, skeletal dysplasias, endocrinopathies, familial short stature, and nutritional deficiencies. Recombinant growth hormone (rGH) therapy may be employed to improve stature based on the underlying etiology and growth velocity. Skeletal dysplasia in Dyggve-Melchior-Clausen (DMC) syndrome tends to be progressive, typically with hip involvement, and ultimately leads to bilateral dislocation of the hip joints. Here, we present a pediatric patient with short stature treated with rGH therapy, complicated by the development of debilitating, bilateral hip pain, and found to have DMC syndrome. Our patient had limited range of motion at several joints including the hips after receiving 6 months of rGH therapy. Given the timing of the patient's rGH therapy and the progression of her disease, it is difficult to determine if there were any benefits and instead, is concerning for worsening of her skeletal dysplasia with rGH therapy use. Consequently, patients with severe short stature should have a thorough workup for genetic causes like DMC syndrome, before initiating rGH therapy to determine any potential benefits or harms of treatment.

摘要

身材矮小有多种原因,包括遗传疾病、骨骼发育不良、内分泌疾病、家族性身材矮小和营养缺乏。可根据潜在病因和生长速度采用重组生长激素(rGH)治疗来改善身高。戴格维-梅尔基奥尔-克劳森(DMC)综合征中的骨骼发育不良往往呈进行性,通常累及髋关节,最终导致双侧髋关节脱位。在此,我们报告一名身材矮小的儿科患者,接受rGH治疗后出现使人衰弱的双侧髋关节疼痛,并被诊断为DMC综合征。我们的患者在接受6个月的rGH治疗后,包括髋关节在内的多个关节活动范围受限。鉴于患者接受rGH治疗的时间以及病情进展,很难确定是否有任何益处,相反,令人担忧的是rGH治疗会使她的骨骼发育不良恶化。因此,严重身材矮小的患者在开始rGH治疗之前,应针对DMC综合征等遗传病因进行全面检查,以确定治疗的任何潜在益处或危害。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/786a/8941567/68cf5f47605c/CRIE2022-8542281.001.jpg

相似文献

1
A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome.
Case Rep Endocrinol. 2022 Mar 15;2022:8542281. doi: 10.1155/2022/8542281. eCollection 2022.
2
A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.
Cureus. 2024 Sep 16;16(9):e69495. doi: 10.7759/cureus.69495. eCollection 2024 Sep.
3
Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report.
Arthroplast Today. 2024 May 7;27:101402. doi: 10.1016/j.artd.2024.101402. eCollection 2024 Jun.
4
Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.
J Orthop Case Rep. 2021 Aug;11(8):84-86. doi: 10.13107/jocr.2021.v11.i08.2378.
5
An extremely rare association of dyggve-melchior-clausen syndrome with mania: coincidence or comorbidity.
Indian J Psychol Med. 2015 Apr-Jun;37(2):226-9. doi: 10.4103/0253-7176.155644.
6
Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.
Mol Syndromol. 2022 Jul;13(4):350-359. doi: 10.1159/000521516. Epub 2022 Mar 2.
8
A Novel Homozygous Frameshift Variant in Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
Front Pediatr. 2020 Jul 16;8:383. doi: 10.3389/fped.2020.00383. eCollection 2020.
9
Treatment of hip subluxation in Dyggve-Melchior-Clausen syndrome.
J Pediatr Orthop B. 1998 Jan;7(1):32-4. doi: 10.1097/01202412-199801000-00005.
10
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
Mol Biol Rep. 2020 Sep;47(9):7083-7088. doi: 10.1007/s11033-020-05774-z. Epub 2020 Sep 4.

引用本文的文献

1
Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.
Cureus. 2025 Feb 11;17(2):e78881. doi: 10.7759/cureus.78881. eCollection 2025 Feb.

本文引用的文献

1
A Novel Homozygous Frameshift Variant in Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
Front Pediatr. 2020 Jul 16;8:383. doi: 10.3389/fped.2020.00383. eCollection 2020.
3
Genetic short stature.
Growth Horm IGF Res. 2018 Feb;38:29-33. doi: 10.1016/j.ghir.2017.12.003. Epub 2017 Dec 6.
4
Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.
Orthop Traumatol Surg Res. 2013 Oct;99(6):745-8. doi: 10.1016/j.otsr.2013.04.006. Epub 2013 Sep 12.
5
Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.
Ger Med Sci. 2011;9:Doc25. doi: 10.3205/000148. Epub 2011 Sep 20.
6
Orthopedic complications related to growth hormone therapy in a pediatric population.
J Pediatr Orthop B. 2011 Jan;20(1):57-61. doi: 10.1097/BPB.0b013e32833ed967.
7
Growth patterns and the use of growth hormone in the mucopolysaccharidoses.
J Pediatr Rehabil Med. 2010;3(1):25-38. doi: 10.3233/PRM-2010-0106.
8
9
Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.
Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16171-6. doi: 10.1073/pnas.0804259105. Epub 2008 Oct 13.
10
Recent advances in Dyggve-Melchior-Clausen syndrome.
Mol Genet Metab. 2004 Sep-Oct;83(1-2):51-9. doi: 10.1016/j.ymgme.2004.08.012.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验