Clinical case of papillorenal syndrome
- Authors: Morozov S.L1,2, Piruzieva O.R1,2, Dlin V.V1,2
-
Affiliations:
- Scientific Research Clinical Institute of Pediatrics n.a. Acad. Yu.E. Veltischev
- FSBEI HE RNRMU n.a. N.I. Pirogov
- Issue: No 1 (2018)
- Pages: 45-50
- Section: Articles
- URL: https://journals.eco-vector.com/2075-3594/article/view/272803
- ID: 272803
Cite item
Open Access
Access granted
Abstract
The article presents clinical observation and a review of the literature devoted to papillorenal syndrome. Papillorenal syndrome (PRS) is a rare autosomal dominant disease caused by PAX2 gene mutation (OMIM 120330). The phenotypic features of the patient with a mutation in the exon 2 of PAX2 gene include a combination of bilateral kidney hypoplasia and coloboma of optic nerve discs, as well as a syndrome of proximal tubule dysfunction that was not previously described in these patients, manifested by unstable glucosuria, nonselective aminoaciduria, and high ß2 microglobulin level. Through the example of the presented clinical case, the need for an integrated approach to the examination of children with an anomaly of kidney development for the early diagnosis of syndromic pathology variants is shown, which is important for determining nephrologic, vital, social and familial prognosis of the disease.
Full Text
About the authors
S. L Morozov
Scientific Research Clinical Institute of Pediatrics n.a. Acad. Yu.E. Veltischev; FSBEI HE RNRMU n.a. N.I. PirogovPhD in Medical Science, Senior Researcher at the Department of Hereditary and Acquired Kidney Diseases SRCI of Pediatrics n.a. Academician Yu.E. Veltischev Moscow, Russia
O. R Piruzieva
Scientific Research Clinical Institute of Pediatrics n.a. Acad. Yu.E. Veltischev; FSBEI HE RNRMU n.a. N.I. PirogovNephrologist at the Department of Nephrology SRCI of Pediatrics n.a. Academician Yu.E. Veltischev Moscow, Russia
V. V Dlin
Scientific Research Clinical Institute of Pediatrics n.a. Acad. Yu.E. Veltischev; FSBEI HE RNRMU n.a. N.I. PirogovDoctor of Medical Sciences, Professor, Head of the Department of Hereditary and Acquired Kidney Diseases SRCI of Pediatrics n.a. Academician Yu.E. Veltischev Moscow, Russia
References
- Eccles M.R. PAX2 and the Renal Coloboma Syndrome. In: Epstein C.J., Erickson R.P., Wynshaw-Boris A., editors. Inborn errors of development: The molecular basis of clinical disorders of morphogenesis. Oxford: Oxford University Press; 2004:633-642.
- Чевиашвили Ж.Г., Савенкова Н.Д., Аничкова И.В., Бржеский В.В., Лысенко Л.А., Насыров Р.А., Федотова Е.П., Осипов И.Б., Комиссаров М.И., Панков Е.А., Карпова Т.В., Смирнова Л.П. Renal-coloboma синдром: обзор литературы, клиническое наблюдение. Педиатр. 2011;2(1):41-50.
- Sanyanusin P., Schimmenti L.A., McNoe L.A., Ward T.A., Pierpont M.E., et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat. Genet. 1995;9:358-364.
- Parsa C.F., Silva E.D., Sundin O.H., Goldberg M.F, De Jong MR, Sunness J.S., Zeimer R., Hunter D.G. Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. Ophthalmol. 2001;108: 738-749.
- Chung G.W., Edwards A.O., Schimmenti L.A., Manligas G.S., Zhang Y.H., Ritter R. 3rd. Renal-coloboma syndrome: report of a novel PAX2 gene mutation. Am. J. Ophthalmol. 2001;132:910-914.
- Zaytoun G.M., Harboyan G., Kabalan W. The oto-palato-digital syndrome: variable clinical expressions. Otolaryngol. Head Neck Surg. 2002; 126:129-140.
- Rieger G. Zum Krankheitsbild der Handmannschen Sehnerven-anomalie: ‘Winderblum’-(‘Morning Glory’) syndrom? Klin. Monatsbl. Augenheilkd. 1977;170:697-706.
- Weaver R.G., Cashwell L.F., Lorentz W., Whiteman D., Geisinger K.R., Ball M. Optic nerve coloboma associated with renal disease. Am. J. Med. Genet. 1988;29(3):597-605.
- Ramakrishna P. Alur, Camasamudram Vijayasarathy, Jacob D. Brown, Mohit Mehtani, Ighovie F. Onojafe, Yuri V. Sergeev, Elangovan Boobalan, MaryPat Jones, Ke Tang, Haiquan Liu, Chun-hong Xia, Xiaohua Gong, Brian P. Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human PLoS Genet. 2010;6(3):e1000870.
- Schimmenti L.A. Renal coloboma syndrome. Eur. J. Hum. Genet. 2011;19(12):1207-1212.
- Nishimoto K., Iijima K., Shirakawa T., Kitagawa K., Satomura K., Nakamura H., Yoshikawa N. PAX2 gene mutation in a family with isolated renal hypoplasia. J. Am. Soc. Nephrol. 2001;12:1769-1772.
- Porteous S., Torban E., Cho N. P., Cunlijfe H., Chua L., McNoe L., Ward T., Souza C., Gus P., Giugliani R., Sato T., Yun K., Favor J., Sicotte M., Goodyer P., Eccles M. Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of PAX2 (1Neu) +/- mutant mice. Hum. Mol. Genet. 2000;9:1-11.
- Torban E., Dziarmaga A., Iglesias D., Chu L.L., Vassilieva T., Little M., Eccles M., Discenza M., Pelletier J., Goodyer P. PAX2 activates WNT4 expression during mammalian kidney development. J. Biol. Chemistry. 2006;281(18):12705-12712.
- Ninoa F., Ilaria M., Noviello C., Genetics of Vesicoureteral Reflux. Curr. Genomics. 2016;17(1):70-79.
- Игнатова М.С., Морозов С.Л., Крыганова Т.А., Шенцева Д.В., Назарова Н.Ф., Конькова Н.Е., Длин В.В. Современные представления о врожденных аномалиях органов мочевой системы (синдром CAKUT) у детей. Клин. нефрология. 2013;2:58-64.
- Vivante A., Kohl S., Hwang D-Y. Single-gene causes of congenital anomalies of the kidney and urinary tract (CACUT) in humans. Pediatr. Nephrol. 2014(29):695-704.
- Maria M. Rodriguez. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). Fetal Pediatr Pathol. 2014;33(5-6): 293-320.
Supplementary files
