ESPN 51th Annual Meeting

ESPN 2018


 
Clinical Observation of the Patient with Hyperoxaluria Type III
OKSANA PIRUZIEVA 1

1- CLINICAL RESEARCH INSTITUTE OF PEDIATRICS NAMED AFTER ACAD. VELTISCHEV, PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY
 
Introduction:

 Primary hyperoxaluria type III is a violation of metabolism of glyoxylate, asymptomatic or oxalate nephrolithiasis, starting at an early age. The disease is inherited in an autosomal recessive type. 

Material and methods:

 The purpose of the abstract is to present a clinical observation of the patient with hyperoxaluria type III

Results:

 The girl is three years old coming from a family with a hereditary burden of bilateral urolithiasis. At the age of 1.5 years, the girl had changes in urine tests, in the form of leukocyturia, while ultrasound revealed concrement in the lower calyx of the right kidney to 6 mm and multiple concrements in the calyx-and-pelvis system of the left kidney to 5 mm. When examined at the Nephrology Department of Veltischev Research and Clinical Institute, the physical development of the child was normal. The clinical and biochemical blood test as well as acid-base blood state were within normal limits. Attention was drawn to non-constant hyperoxaluria (Ox/Cr = 0,08–0,13) and an increase in the level of parathyroid hormone (92.6 pg/ml), while the level of metabolites of vitamin D was normal. Ultrasound also showed multiple X-ray-negative concrements in the collecting system of both kidneys.

The –ľolecular and genetic study revealed mutations  in the HOGA1 gene (homozygous replacement c.266G>A:p.R89H) in the heterozygous state. The mutation was validated in the child and her mother by Sanger sequencing and it has not been previously described. Alamut Visual analysis confirmed the mutation was pathogenic. Mutations in the HOGA1 gene are associated with primary hyperoxaluria type III, OMIM 613616.

Conclusions:

 The major goal of hyperoxaluria type III therapy is to reduce the formation of calcium oxalate crystals and calculi, which requires maintaining a high drinking regime (> 2.5 l/m 2 BSA) using a calcium oxalate crystallization inhibitor.