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| УДК: | 617.7 DOI:https://doi.org/10.25276/2307-6658-2025-4-49-57 |
Романова Е.А., Савенкова Н.Д., Бржеский В.В., Баранов А.Ю.
Особенности офтальмологического фенотипа при наследственных орфанных болезнях почек у детей. Часть 1
1. Salehi O, Mack H, Colville D, Lewis D, Savige J. Ocular manifestations of renal ciliopathies. Pediatric Nephrology. 2024;39(5): 1327–1346. doi: 10.1007/s00467-023-06096-5
2. Bodaghi B, Massamba N, Izzedine H. The eye: a window on kidney diseases. Clinical Kidney Journal. 2014;7(4): 337–338. doi:10.1093/ckj/sfu073
3. Бржеский В.В., Иванов Д.О., Коникова О.А. Руководство по педиатрии. Т. 11. Офтальмология детского возраста. СПб.: СПБГПМУ, 2022. 344 с. [Brzheskiy VV, Ivanov DO, Konikova OA. Rukovodstvo po pediatrii. T. 11. Oftal'mologiya detskogo vozrasta. SPb.: SPBGPMU, 2022. 344 p. (In Russ.)]
4. Dahl E, Koseki H, Balling R. Pax genes and organogenesis. BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology. 1997;19(9): 755–765. doi: 10.1002/ bies.950190905
5. Rossanti R, Morisada N, Nozu K, Kamei K, Horinouchi T, Yamamura T, Minamikawa S, Fujimura J, Nagano C, Sakakibara N, Ninchoji T, Kaito H, Ito S, Tanaka R, Iijima K. Clinical and genetic variability of PAX2-related disorder in the Japanese population. J Hum Genet. 2020 Jun;65(6): 541–549. doi: 10.1038/s10038-020-0741-y
6. Hocking S, Bhandari S, Duggin G. An eye for the diagnosis of chronic renal failure in young patients. Nephrology, Dialysis, Transplantation: Official Publication of the European Dialysis and Transplant Association – European Renal Association. 2002;17(1): 166–168. doi: 10.1093/ndt/17.1.166
7. Rasmussen M, Nielsen ML, Manak JR, Mogensen H, Lildballe DL. PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability. Clinical Kidney Journal. 2021;14(2): 704–706. doi: 10.1093/ckj/sfaa013
8. Okumura T, Furuichi K, Higashide T, Sakurai M, Hashimoto S, Shinozaki Y, Hara A, Iwata Y, Sakai N, Sugiyama K, Kaneko S, Wada T. Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. PLoS One. 2015 Nov 16;10(11): e0142843. doi: 10.1371/ journal.pone.0142843
9. Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. American Journal of Medical Genetics. 1995;59(2): 204–208. doi: 10.1002/ajmg.1320590217
10. Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. Journal of the American Society of Nephrology: JASN. 2006;17(10): 2864–2870. doi: 0.1681/ASN.2006030277
11. Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Jüppner H, Alexander SI. Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. Journal of the American Society of Nephrology: JASN. 2005;16(9): 2754–2761. doi: 10.1681/ASN.2005030239
12. Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, WilsonBrackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Human Mutation. 2012;33(3): 457–466. doi: 10.1002/humu.22020
13. Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR. Mutations in PAX2 associate with adult-onset FSGS. Journal of the American Society of Nephrology: JASN. 2014;25(9): 1942–1953. doi: 10.1681/ASN.2013070686
14. Rieger G. Zum Krankheitsbild er Handmannschen Sehnervenanomalie «Windenblüten» («Morning Glory») Syndrome? [On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl.) Klin Monbl Augenheilkd. 1977 May;170(5): 697–706.
15. Parsa CF, Goldberg MF, Hunter DG. Papillorenal ('renal coloboma') syndrome. American Journal of Ophthalmology. 2002;134(2): 300–301; author reply 301. doi: 10.1016/s0002- 9394(02)01533-7
16. Orpha.net: Rare Diseases and Orphan Medicines Portal [Electronic resource] 2025. https://www.orpha.net/.
17. Corona-Rivera JR, Zenteno JC, López-Pérez LG, YokoyamaRebollar E, Villarroel CE, Barragán-Arévalo T, MontesAlmanza Lá, Zepeda-Romero LC, Morales-Domínguez GE, PeñaPadilla C, Bobadilla-Morales L, Corona-Rivera A. First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations. Molecular Syndromology. 2023;14(2): 143–151. doi: 10.1159/000526975
18. Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG. Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome. The American Journal of Human Genetics. 2012;91(6): 1122–1127. doi: 10.1016/j.ajhg.2012.10.013
19. Silva MW de Be, Martins A, Medeiros AL de, Vasconcelos A de, Ventura CV. Ophthalmological manifestations of the SchuursHoeijmakers syndrome: a case report. Arquivos Brasileiros de Oftalmologia. 2021;85: 85–87. doi: 10.5935/0004- 2749.20220013
20. Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, HansonKahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG. Clinical delineation of the PACS1– related syndrome—Report on 19 patients. Am J Med Genet. 2016 Mar;170(3):670-5. doi: 10.1002/ajmg.a.37476
21. Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, SantosSimarro F, García-Miñaúr S, Palomares-Bralo M, PacioMíguez M, Gómez B, Arias P, Alcochea A, Carrión J, Arias P, Almoguera B, López-Grondona F, Lorda-Sanchez I, GalánGómez E, Valenzuela I, Méndez Perez MP, Cuscó I, Barros F, Pié J, Ramos S, Ramos FJ, Kuechler A, Tizzano E, Ayuso C, Kaiser FJ, Pérez-Jurado LA, Carracedo á, The ENoD-Ciberer Consortium, The Side Consortium, Lapunzina P. SchuursHoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes (Basel). 2021 May 13;12(5): 738. doi: 10.3390/genes12050738
22. Sakakibara N, Ijuin T, Horinouchi T, Yamamura T, Nagano C, Okada E, Ishiko S, Aoto Y, Rossanti R, Ninchoji T, Awano H, Nagase H, Minamikawa S, Tanaka R, Matsuyama T, Nagatani K, Kamei K, Jinnouchi K, Ohtsuka Y, Oka M, Araki Y, Tanaka T, Harada MS, Igarashi T, Kitahara H, Morisada N, Nakamura SI, Okada T, Iijima K, Nozu K. Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome. Nephrology, Dialysis, Transplantation: Official Publication of the European Dialysis and Transplant Association – European Renal Association. 2022;37(2): 262–270. doi: 10.1093/ndt/gfab274
23. Zhang X, Jefferson AB, Auethavekiat V, Majerus PW. The protein deficient in Lowe syndrome is a phosphatidylinositol4,5-bisphosphate 5-phosphatase. Proceedings of the National Academy of Sciences of the United States of America. 1995;92(11): 4853–4856. doi: 10.1073/pnas.92.11.4853
24. Левиашвили Ж.Г., Савенкова Н.Д., Аничкова И.В. Особенности патологии почек у детей с Lowe синдромом. Нефрология. 2015;19(6): 53–60. [Leviashvili ZhG, Savenkova ND, Anichkova IV. Osobennosti patologii pochek u detei s lowe sindromom. Nefrologiia. 2015;19(6): 53–60. (In Russ.)]
25. Tripathi RC, Cibis GW, Tripathi BJ. Pathogenesis of cataracts in patients with Lowe's syndrome. Ophthalmology. 1986;93(8): 1046–1051. doi: 10.1016/s0161-6420(86)33622-4
26. Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatric Nephrology (Berlin, Germany). 2016;31(12): 2201–2212. doi: 10.1007/s00467-016-3343-3
27. Rouxel F, Fauré J, Faure JM, Deschamps F, Burlet G, Flandrin A, Couture A, Prodhomme O, Rendu J, Willems M. Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract. Heliyon. 2022;8(12): e12210. doi: 10.1016/j. heliyon.2022.e12210
28. Eibenberger K, Rezar-Dreindl S, Pusch F, Schmidt-Erfurth U, Stifter E. Management of cataract surgery in Lowe syndrome. International Journal of Ophthalmology. 2022;15(7): 1198– 1202. doi: 10.18240/ijo.2022.07.22
29. Ma X, Ning K, Jabbehdari S, Prosseda PP, Hu Y, Shue A, Lambert SR, Sun Y. Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management. European Journal of Ophthalmology. 2020;30(5): 966–973. doi: 10.1177/1120672120920544
30. Walton DS, Katsavounidou G, Lowe CU. Glaucoma with the oculocerebrorenal syndrome of Lowe. Journal of Glaucoma. 2005;14(3): 181–185. doi: 10.1097/01. ijg.0000158850.07732.05
31. Martin GC, Putterman M, Dureau P. Corneal Keloid in Lowe Syndrome. Ophthalmology. 2022;129(6): 625. doi: 10.1016/j. ophtha.2021.12.006
32. Савенкова Н.Д., Левиашвили Ж.Г., Андреева Е.Ф., Семенова О.А., Папаян К.А. Наследственные болезни почек у детей. Руководство для врачей под редакцией Савенковой Н.Д. Санкт-Петербург: Левша; 2020. 439 с. [Savenkova ND, Leviashvili ZhG, Andreeva EF, Semenova OA, Papayan KA. Nasledstvennye bolezni pochek u detey. Rukovodstvo dlya vrachey pod redaktsiey Savenkovoy N.D. Sankt-Peterburg: Levsha; 2020. 439 s. (In Russ.)]
33. Online Mendelian Inheritance in Man OMIM: An online catalog of Human Genes and Genetic Disorders [Electronic resource]. http:/www.omim.org/.
34. Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM. Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. American Journal of Medical Genetics. Part A. 2004;130A(2): 138–145. doi: 10.1002/ajmg.a.30310
35. Boyer O, Tory K, Machuca E, Antignac C. Idiopathic Nephrotic Syndrome in Children: Genetic Aspects. In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL (eds.) Pediatric Nephrology. Berlin, Heidelberg: Springer; 2016. p. 805–837. doi: 10.1007/978-3-662-43596-0_23
36. Jalanko H. Congenital nephrotic syndrome. Pediatric Nephrology. 2009;24(11): 2121–2128. doi: 10.1007/s00467- 007-0633-9
37. Preston R, Stuart HM, Lennon R. Genetic testing in steroidresistant nephrotic syndrome: why, who, when and how? Pediatric Nephrology (Berlin, Germany). 2019;34(2): 195– 210. doi: 10.1007/s00467-017-3838-6
38. Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I. Ophthalmological aspects of Pierson syndrome. American Journal of Ophthalmology. 2008;146(4): 602–611. doi: 10.1016/j. ajo.2008.05.039
39. Arima M, Tsukamoto S, Akiyama R, Nishiyama K, Kohno RI, Tachibana T, Hayashida A, Murayama M, Hisatomi T, Nozu K, Iijima K, Ohga S, Sonoda KH. Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene. Journal of AAPOS: the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2018;22(5): 401-403.e1. doi: 10.1016/j.jaapos.2018.03.016
40. Magliyah MS, Alsulaiman SM. Development of neovascular glaucoma after intraocular surgery in Pierson s yndrome. Ophthalmic Genetics. 2021;42(3): 317–319. doi: 10.1080/13816810.2021.1881982
41. Bouaoud J, Olivetto M, Testelin S, Dakpe S, Bettoni J, Devauchelle B. Fraser syndrome: review of the literature illustrated by a historical adult case. International Journal of Oral and Maxillofacial Surgery. 2020;49(10): 1245–1253. doi: 10.1016/j.ijom.2020.01.007
42. Левиашвили Ж.Г., Савенкова Н.Д. Орфанное заболевание – FRASER синдром (ORPHA:2052) у детей: характеристика фенотипа и генотипа. Нефрология. 2021;25(3): 28–35. [Leviashvili ZhG, Savenkova ND. Orfannoe zabolevanie – FRASER sindrom (ORPHA:2052) u detei: kharakteristika fenotipa i genotipa. Nefrologiia. 2021;25(3): 28–35. (In Russ.)]
43. Mbonda A, Endomba FT, Kanmounye US, Nkeck JR, Tochie JN. Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report. BMC Pediatrics. 2019;19(1): 292. doi: 10.1186/s12887-019-1673-6
44. Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. Journal of Medical Genetics. 2002;39(9): 623–633. doi: 10.1136/ jmg.39.9.623
45. Das D, Modaboyina S, Raj S, Agrawal S, Bajaj MS. Clinical features and orbital anomalies in Fraser syndrome and a review of management options. Indian Journal of Ophthalmology. 2022;70(7): 2559. doi: 10.4103/ijo. IJO_2627_21
46. Boussion S, Lyonnet S, Van Der Zwaag B, Vogel MJ, Smol T, Mezel A, Manouvrier-Hanu S, Vincent-Delorme C, Vanlerberghe C. Fraser syndrome without cryptophthalmos: Two cases. European Journal of Medical Genetics. 2020;63(4): 103839. doi: 10.1016/j.ejmg.2020.103839
47. Saleh GM, Hussain B, Verity DH, Collin JRO. A Surgical Strategy for the Correction of Fraser Syndrome Cryptophthalmos. Ophthalmology. 2009;116(9): 1707–1712.e1. doi: 10.1016/j. ophtha.2009.05.018
48. Falls ME, Rabinowitz MP, Carrasco JR, Rabinowitz MR. Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review. Allergy & Rhinology (Providence, R.I.). 2018;9: 2152656718804905. doi: 10.1177/2152656718804905
49. Kougou Ntoutoume AR, Mekyna S, Boutimzine N, Amazouzi A, Cherkaoui O. Anophtalmie bilatérale au cours du syndrome de Fraser : à propos d'un cas. Journal Français d'Ophtalmologie. 2022;45(5): e234–e236. doi: 10.1016/j.jfo.2021.05.019
50. Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. The Journal of Pediatrics. 2006;148(3): 410–414. doi: 10.1016/j. jpeds.2005.10.044
51. Левиашвили Ж.Г., Савенкова Н.Д., Горкина О.К., Павлов П.В., Захарова М.Л., Бреусенко Д.В. CHARGE-синдром. Российский вестник перинатологии и педиатрии. 2020;65(1): 116–121. [Leviashvili JG, Savenkova ND, Gorkina OK, Pavlov PV, Zaharova ML, Breusenko DV. CHARGE syndrome. Rossiyskiy vestnik perinatologii i pediatrii. 2020;65(1): 116– 121. (In Russ.)]
52. Pagon RA, Graham JM, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. The Journal of Pediatrics. 1981;99(2): 223–227. doi: 10.1016/s0022-3476(81)80454-4
53. Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. American Journal of Medical Genetics. Part A. 2005;133A(3): 306–308. doi: 10.1002/ajmg.a.30559
54. Kanwar K, Bashey S, Bohnsack BL, Drackley A, Ing A, Rahmani S, Ranaivo HR, McMullen P, Skol A, Yap K, Allegretti V, Rossen JL. Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis. American Journal of Medical Genetics. Part A. 2024;194(8): e63618. doi: 10.1002/ajmg.a.63618
55. Dosunmu EO, Castleberry KM. CHARGE syndrome without colobomas: Ophthalmic findings. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2020;184(3): 611–617. doi: 10.1002/ajmg.c.31840
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