دوره 25، شماره 6 - ( دو ماهنامه طب جنوب 1401 )
جلد 25 شماره 6 صفحات 557-547 |
برگشت به فهرست نسخه ها
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Kalantarhormozi M R, Abbaszadeh M, Abbasi F, Vafaee E, Ghanbari Z. Introducing a Case of MEN-1 Syndrome with Classic Manifestations in Bushehr. Iran South Med J 2023; 25 (6) :547-557
URL: http://ismj.bpums.ac.ir/article-1-1703-fa.html
URL: http://ismj.bpums.ac.ir/article-1-1703-fa.html
کلانترهرمزی محمدرضا، عباس‌زاده مولود، عباسی فاطمه، وفایی الهه، قنبری زهرا. معرفی یک مورد سندروم MEN-1 با تظاهرات کلاسیک در بوشهر. مجله طب جنوب. 1401; 25 (6) :547-557
محمدرضا کلانترهرمزی1 
، مولود عباس‌زاده1 ، فاطمه عباسی1 ، الهه وفایی1 ، زهرا قنبری*2
، مولود عباس‌زاده1 ، فاطمه عباسی1 ، الهه وفایی1 ، زهرا قنبری*2
1- گروه داخلی، دانشکده پزشکی، دانشگاه علوم پزشکی بوشهر، بوشهر، ایران
2- گروه داخلی، دانشکده پزشکی، دانشگاه علوم پزشکی بوشهر، بوشهر، ایران ،z.ghanbari1986@yahoo.com
2- گروه داخلی، دانشکده پزشکی، دانشگاه علوم پزشکی بوشهر، بوشهر، ایران ،
چکیده: (2590 مشاهده)
نئوپلازی غدد درون‌ریز نوع ۱ (MEN-1) که به نام سندروم ورمر نیز شناخته می‌شود یک اختلال اتوزومال غالب است که با وقوع ترکیبی دو یا چند تومور (به طور کلاسیک غدد پاراتیروئید، پانکراس و هیپوفیز) مشخص می‌شود. به دلیل نادر بودن سندروم MEN-1 و پیچیدگی بیماری، مدیریت بالینی دشوار است و توصیه به همکاری تیم حرفه‌ای شامل: متخصص ژنتیک بالینی، غدد، گوارش، آنکولوژی، جراح غدد، جراح مغز و اعصاب، رادیولوژیست و هیستوپاتولوژیست می‌شود. در اینجا یک مورد بیمار جوان مبتلا به سندروم MEN-1 معرفی می‌شود که به علت هیپرکلسمی در بیمارستان شهدای خلیج‌فارس بوشهر بستری شد. بیمار در کودکی سابقه لیپوما داشته و در حال حاضر دچار درگیری تومورال هر سه غده کلاسیک این سندروم می‌باشد.
نوع مطالعه: گزارش موردی |
موضوع مقاله:
دستگاه غدد
دریافت: 1401/6/25 | پذیرش: 1402/2/31 | انتشار: 1402/4/13
دریافت: 1401/6/25 | پذیرش: 1402/2/31 | انتشار: 1402/4/13
فهرست منابع
1. Singh G, Mulji NJ, Jialal I. Multiple Endocrine Neoplasia Type 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023. [PubMed]
2. Carroll RW. Multiple endocrine neoplasia type 1 (MEN1). Asia Pac J Clin Oncol 2013; 9(4): 297-309. [DOI]
3. Gaztambide S, Vazquez F, Castano L. Diagnosis and treatment of multiple endocrine neoplasia type 1 (MEN1). Minerva Endocrinol 2013; 38(1): 17-28. [PubMed]
4. Kamilaris CDC, Stratakis CA. Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis. Front Endocrinol (Lausanne) 2019; 10: 339. [DOI]
5. Thakker RV, Newey PJ, Walls GV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 2012; 97(9): 2990-3011. [DOI]
6. Brandi ML, Agarwal SK, Perrier ND, et al. Multiple Endocrine Neoplasia Type 1: Latest Insights. Endocr Rev 2021; 42(2): 133-170. [DOI]
7. Manoharan J, Bollmann C, Kann PH, et al. Gender Differences in Multiple Endocrine Neoplasia Type 1: Implications for Screening? Visc Med 2020; 36(1): 3-9. [DOI]
8. Giusti F, Marini F, Brandi ML. Multiple Endocrine Neoplasia Type 1. In: Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 2005; 1993-2023. [PubMed]
9. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 2008; 29(1): 22-32. [DOI]
10. Agarwal SK, Guru SC, Heppner C, et al. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 1999; 96(1): 143-152. [DOI]
11. Yaguchi H, Ohkura N, Takahashi M, et al. Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. Mol Cell Biol 2004; 24(15): 6569-6580. [DOI]
12. Yang Y, Hua X. In search of tumor suppressing functions of menin. Mol Cell Endocrinol 2007; 265-266: 34-41. [DOI]
13. Ibrahim MN, Liem J, ElKady A. Multiple endocrine neoplasia type 1 (MEN1) presenting with renal stones: Case report and review. Radiol Case Rep 2020; 15(12): 2503-2509. [DOI]
14. Falchetti A. Genetics of multiple endocrine neoplasia type 1 syndrome: what’s new and what’s old. F1000Res 2017; 6: F1000 Faculty Rev-73. [DOI]
15. White HD, Blair J, Pinkney J, et al. Improvement in the care of multiple endocrine neoplasia type 1 through a regional multidisciplinary clinic. QJM 2010; 103(5): 337-45. [DOI]
16. Bassett JH, Forbes SA, Pannett AA, et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 1998; 62(2): 232-244. [DOI]
17. Burgess JR, Greenaway TM, Shepherd JJ. Expression of the MEN-1 gene in large kindred with multiple endocrine neoplasia type 1. J Intern Med 1998; 243(6): 465-470. [DOI]
18. Vierimaa O, Ebeling TM, Kytola S, et al. Multiple endocrine neoplasia type 1 in northern Finland; clinical features and genotype-phenotype correlation. Eur J Endocrinol 2007; 157(3): 285-294. [DOI]
19. Chigot JP, Bendib S, Turpin G, et al. Characteristic pathological associations in multiple endocrine neoplasia type 1. Presse Med 1996; 25(27): 1229-1233. [PubMed]
20. Kato H, Uchimura I, Morohoshi M, et al. Multiple endocrine neoplasia type 1 associated with spinal ependymoma. Intern Med 1996; 35(4): 285-289. [DOI]
21. Giraud S, Choplin H, Teh BT, et al. A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation. J Clin Endocrinol Metab 1997; 82(10): 3487-3492. [DOI]
22. Doumith R, de Gennes JL, Cabane JP, et al. Pituitary prolactinoma, adrenal aldosteroneproducing adenomas, gastric schwannoma and colonic polyadenomas: a possible variant of multiple endocrine neoplasia (MEN) type I. Acta Endocrinol (Copenh) 1982; 100(2): 189-195. [DOI]
23. Pack S, Turner ML, Zhuang Z, et al. Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene. J Invest Dermatol 1998; 110(4): 438-440. [DOI]
24. McKeeby JL, Li X, Zhuang Z, et al. Multiple leiomyomas of the esophagus, lung, and uterus in multiple endocrine neoplasia type 1. Am J Pathol 2001; 159(3): 1121-1127. [DOI]
25. Asgharian B, Chen YJ, Patronas NJ, et al. Meningiomas may be a component tumor of multiple endocrine neoplasia type 1. Clin Cancer Res 2004; 10(3): 869-880. [DOI]
26. Wermer P. Genetic aspects of adenomatosis of endocrine glands. Am J Med 1954; 16(3): 363-371. [DOI]
27. Goudet P, Bonithon-Kopp C, Murat A, et al. Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'etude des Tumeurs Endocrines. Eur J Endocrinol 2011; 165(1): 97-105. [DOI]
28. Makri A, Bonella MB, Keil MF, et al. Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease. Clin Endocrinol (Oxf) 2018; 89(4): 437-443. [DOI]
29. van Leeuwaarde RS, Dreijerink KM, Ausems MG, et al. MEN1-dependent breast cancer: indication for early screening? results from the Dutch MEN1 study group. J Clin Endocrinol Metab 2017; 102(6): 2083-2090. [DOI]
30. Ito T, Igarashi H, Uehara H, et al. Causes of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors. Medicine (Baltimore) 2013; 92(3): 135-181. [DOI]
31. Norton JA, Krampitz G, Zemek A, et al. Better survival but changing causes of death in patients with multiple endocrine neoplasia type 1. Ann Surg 2015; 261(6): 147-148. [DOI]
32. Dean PG, van Heerden JA, Farley DR, et al. Are patients with multiple endocrine neoplasia type I prone to premature death? World J Surg 2000; 24(11): 1437-1441. [DOI]
33. Doherty GM, Olson JA, Frisella MM, et al. Lethality of multiple endocrine neoplasia type I. World J Surg 1998; 22(6): 581-587. [DOI]
34. Geerdink EA, Van der Luijt RB, Lips CJ. Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening? Eur J Endocrinol 2003; 149(6): 577-582. [DOI]
35. Goudet P, Murat A, Binquet C, et al. Risk factors and causes of death in MEN1 disease. A GTE (Groupe d'Etude des Tumeurs Endocrines) cohort study among 758 patients. World J Surg 2010; 34(2): 249-255. [DOI]
36. Keller HR, Record JL, Lall NU. Multiple Endocrine Neoplasia Type 1: A Case Report With Review of Imaging Findings. Ochsner J 2018; 18(2): 170-175. [DOI]
37. Debruyne F, Delaere P, Ostyn F, et al. Daily follow-up of serum parathyroid hormone and calcium after surgery for primary hyperparathyroidism. J Otolaryngol 1999; 28(6): 305-308. [PubMed]
38. Mozzon M, Mortier PE, Jacob PM, et al. Surgical management of primary hyperparathyroidism: the case for giving up quick intraoperative PTH assay in favor of routine PTH measurement the morning after. Ann Surg 2004; 240(6): 949-953. [DOI]
39. Giusti F, Cianferotti L, Gronchi G, et al. Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to multiple endocrine neoplasia syndrome type 1 (MEN1). Endocrine 2016; 52(3): 495-506. [DOI]
40. Tichomirowa MA, Daly AF, Beckers A. Familial pituitary adenomas. J Intern Med 2009; 266(1): 5-18. [DOI]
41. Beckers A, Betea D, Valdes Socin H, et al. The treatment of sporadic versus MEN1-related pituitary adenomas. J Intern Med 2003; 253(6): 599-605. [DOI]
42. Beckers A. Gigantism: a mystery explained. Bull Mem Acad R Med Belg 2002; 157(1-2): 111-117. [PubMed]
43. Jensen RT. Pancreatic endocrine tumors: recent advances. Ann Oncol 1999; 10(4): 170-176. [PubMed]
44. Tonelli F, Fratini G, Falchetti A, et al. Surgery for gastroenteropancreatic tumours in multiple endocrine neoplasia type 1: review and personal experience. J Intern Med 2005; 257(1): 38-49. [DOI]
45. Langer P, Cupisti K, Bartsch DK, et al. Adrenal involvement in multiple endocrine neoplasia type 1. World J Surg 2002; 26(8): 891-896. [DOI]
46. Schaefer S, Shipotko M, Meyer S, et al. Natural course of small adrenal lesions in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study. Eur J Endocrinol 2008; 158(5): 699-704. [DOI]
47. Gatta-Cherifi B, Chabre O, Murat A, et al. Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d'etude des Tumeurs Endocrines database. Eur J Endocrinol 2012; 166(2): 269-279. [DOI]
ارسال پیام به نویسنده مسئول
| بازنشر اطلاعات | |
 |
این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است. |
