Clinical case of papillorenal syndrome
DOI: https://dx.doi.org/10.18565/nephrology.2018.1.45-50
S.L. Morozov, O.R. Piruzieva, V.V. Dlin
Scientific Research Clinical Institute of Pediatrics n.a. Acad. Yu.E. Veltischev FSBEI HE RNRMU n.a. N.I. Pirogov; Moscow, Russia
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 β2 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.
Keywords: papillorenal syndrome, coloboma of optic nerve, kidney hypoplasia, chronic Kidney disease, PAX2
About the Autors
Information aboout the authors:
Morozov S.L. – PhD in Medical Science, Senior Researcher at the Department of Hereditary and Acquired Kidney Diseases SRCI of Pediatrics n.a. Academician Yu.E. Veltischev FSBEI HE RNRMU n.a. N.I. Pirogov of RMH; Moscow, Russia
Piruzieva О.R. – Nephrologist at the Department of Nephrology SRCI of Pediatrics n.a. Academician Yu.E. Veltischev FSBEI HE RNRMU n.a. N.I. Pirogov of RMH; Moscow, Russia
Dlin V.V. – Doctor of Medical Sciences, Professor, Head of the Department of Hereditary and Acquired Kidney Diseases SRCI of Pediatrics n.a. Academician Yu.E. Veltischev FSBEI HE RNRMU n.a. N.I. Pirogov of RMH; Moscow, Russia
Русский
