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Page 1
Renal coloboma syndrome.
Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL. Dureau P, et al. Ophthalmology. 2001 Oct;108(10):1912-6. doi: 10.1016/s0161-6420(01)00722-9. Ophthalmology. 2001. PMID: 11581073
OBJECTIVE: To characterize the ocular features of renal coloboma syndrome. DESIGN: Prospective, observational case series. ...Fundus abnormalities were symmetrical in most cases and unrelated to renal status. CONCLUSIONS: Ophthalmic and renal characteristics …
OBJECTIVE: To characterize the ocular features of renal coloboma syndrome. DESIGN: Prospective, observational case seri …
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP.
Sels L, Dirven W, Devriendt K, Leys A. Sels L, et al. Retin Cases Brief Rep. 2020 Winter;14(1):77-81. doi: 10.1097/ICB.0000000000000625. Retin Cases Brief Rep. 2020. PMID: 28820764
PURPOSE: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. METHODS: Observational case report over a period of 45 years. ...Both had a confirmed mutation in exon 2 of the PAX2 gene. CONCLUSION: This firs …
PURPOSE: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. METH …
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X, Li Y, Fang Y, Shi H, Xiang T, Liu J, Liu J, Tang X, Fang X, Chen J, Zhai Y, Shen Q, Bi Y, Qian Y, Wu B, Wang H, Zhou W, Ma D, Bai H, Mao J, Chen L, Wang X, Gao X, Zhang R, Zhuang J, Zhang A, Jiang X, Xu H, Rao J. Yang X, et al. BMC Med Genomics. 2021 Oct 25;14(1):250. doi: 10.1186/s12920-021-01102-x. BMC Med Genomics. 2021. PMID: 34696790 Free PMC article.
BACKGROUND: Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis. ...
BACKGROUND: Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from r …
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, Koneth I, Schiffer M, Anikster Y, Hildebrandt F. Vivante A, et al. Pediatr Nephrol. 2019 Sep;34(9):1607-1613. doi: 10.1007/s00467-019-04256-0. Epub 2019 Apr 17. Pediatr Nephrol. 2019. PMID: 31001663 Free PMC article.
BACKGROUND: Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss. ...
BACKGROUND: Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic …
Successful ABO-incompatible living-donor renal transplant without splenectomy for renal coloboma syndrome: a case report.
Kobayashi Y, Hayashi T, Ishii T, Uemura H. Kobayashi Y, et al. Exp Clin Transplant. 2014 Apr;12(2):162-4. doi: 10.6002/ect.2013.0005. Epub 2013 Jul 30. Exp Clin Transplant. 2014. PMID: 23902562 Free article.
Many patients with renal coloboma syndrome develop end-stage renal disease requiring renal replacement therapy. ...We treated a 22-year-old man who had end-stage renal disease from renal coloboma syndrome. We performed an ABO-incompatible …
Many patients with renal coloboma syndrome develop end-stage renal disease requiring renal replacement therapy. ...We t …
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.
Iatropoulos P, Daina E, Mele C, Maranta R, Remuzzi G, Noris M. Iatropoulos P, et al. Pediatr Nephrol. 2012 Oct;27(10):1989-93. doi: 10.1007/s00467-012-2205-x. Epub 2012 Jun 4. Pediatr Nephrol. 2012. PMID: 22660956
BACKGROUND: Renal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities. ...
BACKGROUND: Renal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities …
A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease.
Saida K, Kamei K, Morisada N, Ogura M, Ogata K, Matsuoka K, Nozu K, Iijima K, Ito S. Saida K, et al. CEN Case Rep. 2020 Feb;9(1):19-23. doi: 10.1007/s13730-019-00419-y. Epub 2019 Sep 19. CEN Case Rep. 2020. PMID: 31538321 Free PMC article.
Renal coloboma syndrome (RCS, MIM#120330), also known as papillorenal syndrome, is an inherited autosomal dominant disease characterized by ocular and/or renal involvement due to PAX2 mutation. ...
Renal coloboma syndrome (RCS, MIM#120330), also known as papillorenal syndrome, is an inherited autosomal dominant dise …
Comprehensive First-Line Magnetic Resonance Imaging in Hypertension: Experience From a Single-Center Tertiary Referral Clinic.
Burchell AE, Rodrigues JC, Charalambos M, Ratcliffe LE, Hart EC, Paton JF, Baumbach A, Manghat NE, Nightingale AK. Burchell AE, et al. J Clin Hypertens (Greenwich). 2017 Jan;19(1):13-22. doi: 10.1111/jch.12920. Epub 2016 Oct 19. J Clin Hypertens (Greenwich). 2017. PMID: 27759186 Free PMC article.
Secondary causes were identified in 14.5% of patients: 12 adrenal masses, 10 renal artery stenoses, seven thyroid abnormalities, one aortic coarctation, one enlarged pituitary gland, one polycystic kidney disease, and one renal coloboma syndrome. This compreh …
Secondary causes were identified in 14.5% of patients: 12 adrenal masses, 10 renal artery stenoses, seven thyroid abnormalities, one aortic …
Papillorenal syndrome after Beta-interferon treatment in pregnancy.
Gucev ZS, Kirovski I, Jancevska A, Popjordanova N, Tasic V. Gucev ZS, et al. Ren Fail. 2009;31(7):602-5. doi: 10.1080/08860220902968862. Ren Fail. 2009. PMID: 19839859
Papillo-Renal Syndrome (PRS, or Renal-Coloboma Syndrome) is an autosomal dominant disorder, characterized by colobomatous eye defects, abnormal vascular pattern of the optic disk, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and somet …
Papillo-Renal Syndrome (PRS, or Renal-Coloboma Syndrome) is an autosomal dominant disorder, characterized by colobomato …
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.
Zhang L, Zhai SB, Zhao LY, Zhang Y, Sun BC, Ma QS. Zhang L, et al. BMC Nephrol. 2018 Sep 21;19(1):245. doi: 10.1186/s12882-018-1044-9. BMC Nephrol. 2018. PMID: 30241513 Free PMC article. Review.
We searched the literature and confirmed that this mutation site has not been reported by any other group before. CONCLUSIONS: Although renal coloboma syndrome (RCS) with simultaneous kidney and eye involvement is the most common phenotype of PAX2 mutations, …
We searched the literature and confirmed that this mutation site has not been reported by any other group before. CONCLUSIONS: Although r …
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