Clinical analysis of 13 children with primary hyperoxaluria type 1

Jin-Ai Lin,Jiang Qiu,Wenlin Wu,Xin Liao,Lixia Xiao,Longshan Liu

doi:10.1007/s00240-021-01249-3

Abstract

A retrospective statistical analysis of primary hyperoxaluria type 1 (PH1) in children from June 2016 to May 2019 was carried out to discover its clinical and molecular biological characteristics. Patients were divided into two groups (infant and noninfant) according to clinic type. There were 13 pediatric patients (male:female = 6:7) with PH1 in the cohort from 11 families (four of which were biological siblings from two families), whose median age of symptom onset was 12 months and median confirmed diagnosis age was 14 months. Infant type (6 patients) was the most common type. The infant type mortality rate (100%) was higher than the noninfant (14.3%) (p = 0.029). The incidence of renal failure in infant patients was 67%, while the noninfant was 14.3%. 8 of 10 patients with nephrocalcinosis (NC) (76.92%, 10/13) were diagnosed by radiological imaging examinations, including X-ray (3 patients), CT (4 patients) and MRI (1 patient). NC was an independent risk factor for renal insufficiency [OR 3.33, 95% CI (0.7–1.2)], p < 0.05). Nine types of AGXT gene mutations were found; 1 type, c.190A > T, were first reported here. The most common AGXT gene mutation was c.679_680del, which occurred in exon 6 (5 patients). The infant type is the most common type of pediatric PH, with a relatively higher ratio of renal failure at symptom onset and poor prognosis. NC is an independent risk factor leading to renal failure, and radiological imaging examination is recommended for patients with abnormal ultrasound examination to identify NC. AGXT gene detection is important for the diagnosis and treatment of PH1 in children.

Highlights

Primary hyperoxaluria (PH) is a metabolic disease [1]
We retrospectively reviewed the clinical data of 13 pediatric patients with PH1 and analyzed their clinical, imaging and
PH1 classification [3] is divided into different types: Infant type, child and adolescent type, adult type, post transplantation type, and family type

Summary

Introduction

Primary hyperoxaluria (PH) is a metabolic disease [1]. It is a kind of kidney disease caused by gene mutation resulting in the loss of some enzymes in oxalate metabolism and an increased oxalate concentration in the urine. It can cause stones, kidney calcification and even kidney failure. As patients with PH1 continue to deteriorate, PH1 is the main cause of renal failure. It has become a hotspot in the clinic. We retrospectively reviewed the clinical data of 13 pediatric patients with PH1 and analyzed their clinical, imaging and

Methods

Results

Discussion

Conclusion