Primary hyperoxaluriatype 1: description of the clinical case


M.P. Safonova, V.V. Dlin, E.A. Potrokhova, L.S. Baleva

SABU FSBEI HE RNSMU n.a. NI. Pirogov of RMH "Scientific Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev", Moscow, Russia
The clinical experience of management of a patient with hereditary hyperoxaluria type 1 is described. Primary hyperoxaluria (oxalosis) is a rare autosomal recessive disease, manifested by diffuse deposition of calcium salts in interstitium, glomeruli and walls of renal arterioles, accompanied by sclerotic changes and development of renal failure. The article presents the pathogenetic aspects of the development of nephrocalcinosis in hyperoxaluria. The need for timely diagnosis and the appointment of adequate therapy in order to slow the progression of the pathological process in the kidney tissue is demonstrated
Keywords: AGXT gene, oxalates, child, nephrocalcinosis, hyperoxaluria, treatment
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About the Autors

Safonova M.P. – PhD in Medical Sciences, Leading Researcher at the Department of Radiation Ecopathology of Childhood, SABU SRCI of Pediatrics n.a. Academician Yu.E. Veltishchev FSBEI HE "RNSMU n.a. N.I. Pirogov" of RMH; Moscow, Russia. E-mail: marinasafonova7@mail.ru
Dlin V.V. – Doctor of Medical Sciences, Professor, Acting Director of the SABU SRCI of Pediatrics n.a. Academician Yu.E. Veltishchev FSBEI HE "RNSMU n.a. N.I. Pirogov" of RMH; Moscow, Russia. E-mail: vvdlin@mail.ru
Potrokhova E.A. – Doctor of Medical Sciences, Professor, Leading Researcher at the Department of Radiation Ecopathology of Childhood, SABU SRCI of Pediatrics n.a. Academician Yu.E. Veltishchev FSBEI HE "RNSMU n.a. N.I. Pirogov" of RMH; Moscow, Russia. E-mail: potroshova@mail.ru
Baleva L.S. – Doctor of Medical Sciences, Professor, Head of the Children's Scientific and Practical Center for Radiation Protection, SABU SRCI of Pediatrics n.a. Academician Yu.E. Veltishchev FSBEI HE "RNSMU n.a. N.I. Pirogov" of RMH; Moscow, Russia. E-mail: baleva@pedklinl.ru


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