山东大学学报 (医学版) ›› 2024, Vol. 62 ›› Issue (4): 108-111.doi: 10.6040/j.issn.1671-7554.0.2023.1143
• 病例报道 • 上一篇
周立飞1,2,郑琳璐1,3,王文艺1,4,李建磊1,4,张丹莉1,3,张萍萍1,田海深1,李亚丽1
中图分类号:
| [1] Kang HG, Ahn YH, Kim JH, et al. Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding[J]. Clin Exp Ophthalmol, 2015, 43(5): 437-442. [2] Potter DE, Holliday MA, Piel CF,et al. Treatment of end-stage renal disease in children: a 15year experience[J]. Kidney Int, 1980,18(1): 103-109. [3] Hildebrandt F, Otto E, Rensing C, et al.A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1[J]. Nat Genet, 1997, 17(2): 149-153. [4] Abdelwahed M, Maaloul I, Benoit V, et al.Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis[J]. Acta Clin Belg, 2021, 76(1): 16-24. [5] Hoefele J, Nayir A, Chaki M, et al. Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion[J]. Pediatr Nephrol, 2011, 26(6): 967-971. [6] Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy[J]. J Am Soc Nephrol, 2009, 20(1): 23-35. [7] Otto EA, Helou J, Allen SJ, et al. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing[J]. Hum Mutat, 2008, 29(3): 418-426. [8] Simms RJ, Hynes AM, Eley L, et al. Nephronophthisis: a genetically diverse ciliopathy[J]. Int J Nephrol, 2011, 2011: 527137. doi: 10.4061/2011/527137. [9] Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies[J]. J Am Soc Nephrol, 2007,18(6):1855-1871. [10] Akira M, Suzuki H, Ikeda A, et al. Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report[J]. BMC Nephrol, 2021, 22(1): 261. [11] Wolf MT. Nephronophthisis and related syndromes[J]. Curr Opin Pediatr, 2015, 27(2): 201-211. [12] Chettiankandi S, Khan GA, Khan HA. Joubert syndrome with a rare ocular phenotype: coloboma with retrobulbar cysts - a case report[J]. Case Rep Ophthalmol, 2022, 13(2): 604-610. [13] Maria BL, Quisling RG, Rosainz LC, et al.Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance[J]. J Child Neurol, 1999, 14(6): 368-376. [14] Maria BL, Boltshauser E, Palmer SC, et al.Clinical features and revised diagnostic criteria in Joubert syndrome[J]. J Child Neurol, 1999, 14(9): 583-590. [15] Yahalom C, Volovelsky O, Macarov M, et al. SENIOR-LØKEN SYNDROME: a case series and review of the renoretinal phenotype and advances of molecular diagnosis[J]. Retina. 2021, 41(10): 2179-2187. [16] Lu J, Xiong K, Qian X, et al.Chen R. Spata7 is required for maintenance of the retinal connecting cilium[J]. Sci Rep, 2022, 12(1): 5575. [17] Birtel J, Spital G, Book M,et al. NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy[J]. Kidney Int, 2021, 100(5): 1092-1100. [18] Wolf MT. Nephronophthisis and related syndromes[J]. Curr Opin Pediatr, 2015, 27(2): 201-211. [19] Snoek R, van Setten J, Keating BJ, et al. NPHP1(nephrocystin-1)gene deletions cause adult-onset ESRD[J]. J Am Soc Nephrol, 2018, 29(6): 1772-1779. [20] 马斯禹,阮雯聪,曹宗富,等.一例NPHP1纯合缺失所致的Joubert综合征[J].生殖医学杂志, 2019, 28(7): 797-804. [21] Kramers BJ, Koorevaar IW, van Gastel MDA, et al.Effects of hydrochlorothiazide and metformin on aquaresis and nephroprotection by a vasopressin V2 receptor antagonist in ADPKD: a randomized crossover trial[J]. Clin J Am Soc Nephrol, 2022, 17(4): 507-517. |
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