Случай поздней диагностики синдрома Барде-Бидля

Синдром Барде-Бидля — редкое мультисистемное аутосомно-рецессивное заболевание, относящееся к спектру цилиопатий. Характерными признаками являются центральное ожирение и гипогонадизм, пигментный ретинит, дисфункция и аномалии развития мочевыводящих путей, полидактилия, задержка психического развития и трудности в обучении. Синдром диагностируется на основании клинических проявлений и симптомов, которые могут быть подтверждены молекулярно-генетическим тестированием.

В статье обсуждаются вопросы клинических особенностей, диагностики, дифференциальной диагностики, трудности и возможности лечения пациента с прогрессирующим ожирением и ассоциированных с ним расстройств. Синдром Барде-Бидля верифицирован в возрасте 23 лет при генетическом анализе: в гене BBS1 (NM 024649.5) в 12 экзоне обнаружен патогенный вариант (HG38, chr11:66526181T>G, c.1169T>G) в гомозиготном состоянии.

1. Pomeroy J, Krentz AD, Richardson JG, et al. Bardet-Biedl syndrome: weight patterns and genetics in a rare obesity syndrome. Pediatr Obes. 2021;16(2):e12703. doi: https://doi.org/10.1111/ijpo.12703

2. Forsythe E, Mallya UG, Yang M, et al. Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey. Orphanet J Rare Dis. 2023;18(1):182. doi: https://doi.org/10.1186/s13023-023-02723-4

3. Melluso A, Secondulfo F, Capolongo G, et al. Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Ther Clin Risk Manag. 2023;19:115-132. doi: https://doi.org/10.2147/TCRM.S338653

4. Forsyth RL, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [Updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024

5. Van Roy N, Heerwegh S, Husein D, et al. A diagnostic conundrum in Bardet-Biedl syndrome: when genetic diagnosis precedes clinical diagnosis. Endocrinol Diabetes Metab Case Rep. 2023;2023(4):23-0055. doi: https://doi.org/10.1530/EDM-23-0055

6. Caba L, Florea L, Braha EE, et al. Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do. J Multidiscip Healthc. 2022;15:2153-2167. doi: https://doi.org/10.2147/JMDH.S274739

7. Edwar M, Ragab U, Kamel AA. Bardet-Biedl syndrome: The longer we miss, the worse is the outcome. Caspian J Intern Med. 2022;13(4):805-809. doi: https://doi.org/10.22088/cjim.13.4.805

8. Tomlinson JW. Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction. Diabetes Obes Metab. 2024;26 Suppl 2:13-24. doi: https://doi.org/10.1111/dom.15480

9. Elawad OAMA, Dafallah MA, Ahmed MMM, et al. BardetBiedl syndrome: a case series. J Med Case Rep. 2022;16(1):169. doi: https://doi.org/10.1186/s13256-022-03396-6

10. Kumar A, Husain A Sr, Saleem A, et al. Laurence-Moon-BardetBiedl Syndrome: A Rare Case With a Literature Review. Cureus. 2020;12(11):e11355. doi: https://doi.org/10.7759/cureus.11355

11. Beales PL, Elcioglu N, Woolf AS, et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36(6):437-446

12. Dollfus H, Lilien MR, Maffei P, et al. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. Eur J Hum Genet. 2024;32(11):1347-1360. doi: https://doi.org/10.1038/s41431-024-01634-7

13. Katagiri S, Hosono K, Hayashi T, et al. Novel biallelic splicesite BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient. Doc Ophthalmol. 2020;141(1):77-88. doi: https://doi.org/10.1007/s10633-020-09752-5

14. Kurata K, Hosono K, Hikoya A, et al. Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. Jpn J Ophthalmol. 2018;62(4):458-466. doi: https://doi.org/10.1007/s10384-018-0591-8

15. Nowak-Ciołek M, Ciołek M, Tomaszewska A, et al. Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review. Front Endocrinol (Lausanne). 2024;15:1424819. doi: https://doi.org/10.3389/fendo.2024.1424819

16. Forsyth RL, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [Updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024

17. Iannello S, Bosco P, Cavaleri A, et al. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Obes Rev. 2002;3(2):123-135. doi: https://doi.org/10.1046/j.1467-789x.2002.00055.x

18. Mujahid S, Hunt KF, Cheah YS, et al. The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population. J Clin Endocrinol Metab. 2018;103(5):1834-1841

19. Shoemaker A. Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management. Diabetes Obes Metab. 2024;26 Suppl 2:25-33. doi: https://doi.org/10.1111/dom.15494

20. Haqq AM, Chung WK, Dollfus H, et al. Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period. Lancet Diabetes Endocrinol. 2022;10(12):859-868

21. Boscolo M, Féry F, Cnop M. Beneficial outcomes of sleeve gastrectomy in a morbidly obese patient with Bardet-Biedl syndrome. J Endocr Soc. 2017; 1(4): 317-322; Tomlinson JW. Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction. Diabetes Obes Metab. 2024;26 Suppl 2:13-24. doi: https://doi.org/10.1111/dom.15480

22. Forsythe E, Kenny J, Bacchelli C, et al. Managing Bardet-Biedl Syndrome-Now and in the Future. Front Pediatr. 2018;6:23. doi: https://doi.org/10.3389/fped.2018.00023

23. Desai A, Jha O, Iyer V, et al. Reversible hypogonadism in Bardet-Biedl syndrome. Fertil Steril. 2009;92(1): doi: https://doi.org/10.1016/j.fertnstert.2009.02.023

24. Raivio T, et al. Reversal of idiopathic hypogonadotropic hypogonadism. N Engl J Med. 2007;357(9):863-873

25. Kumar S, Mahajan BB, Mittal J. Bardet-Biedl syndrome: a rare case report from North India. Indian J Dermatol Venereol Leprol. 2012;78(2):228. doi: https://doi.org/10.4103/0378-6323.93656