ESPN 51th Annual Meeting

ESPN 2018


 
A mutation of HNF1b gene in a child with kidney polycystosis
OKSANA PIRUZIEVA 1 NATALIYA KONKOVA 1

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

 Mutation in the gene HNF1b is a usual cause of an autosomal dominant disease, including abnormal kidney development and diabetes.

Material and methods:

 The goal of the report is to present a patient with polycystic kidney disease associated with a mutation of the HNF1b gene.

Results:

A boy, 4 years old, was born in a family with inheritance burdened with kidney anomalies on both lines. The weight and height at birth were normal.  The US examination revealed multiple cysts of both kidneys with calcificates in them; urinary syndrome in this patient presents minimal proteinuria, glucosuria, a non-permanent abacterial leukocyturia. In the biochemical analysis of blood the level of creatinine was 99 µmol/l, urea - 12.1 mmol/l, also there were non-persistent hypercalcemia and hypophosphatemia, high alkaline phosphatase level in blood.
The physical development is normal, with moderate valgus deformation of the lower limbs. Acid-base status of the blood is normal. The biochemical analysis of blood creatinine was 93 µmol/l, eGFR Schwartz – 47 ml/min/1,73m2, urea-10.9 mmol/L.Urinary syndrome presents minimal proteinuria, microalbuminuria. Also the child has an increased level of β-2-microglobulin in urine. He also showed osteoporosis in forearm and shin bones. The ultrasound examination of kidneys revealed the cortical and medullary layer multiple cysts with calcificates. The child was examined with NGS, and  it revealed previously describeded heterozygous mutation in exon 4 of HNF1B (chr17:36091813C> T), (p.Cys273Tyr, NM_000458.2) (OMIM: 137920).

Conclusions:

 During the observation period, the child receives nephroprotective therapy with ACE inhibitors, inhibitors of crystal formation; we observed a decrease of alkaline phosphatase level and the absence of negative dynamics in this child.