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. 2021 Oct;49(5):425-431.
doi: 10.1007/s00240-021-01249-3. Epub 2021 Mar 15.

Clinical analysis of 13 children with primary hyperoxaluria type 1

Jin-Ai Lin  1 , Xin Liao  2 , Wenlin Wu  1 , Lixia Xiao  1 , Longshan Liu  3 , Jiang Qiu  4
Affiliations

Clinical analysis of 13 children with primary hyperoxaluria type 1

Jin-Ai Lin et al. Urolithiasis. 2021 Oct.

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.

Keywords: AGXT gene; Children; Nephrocalcinosis; Primary hyperoxaluria type I.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Fig. 1
Fig. 1
Radiological imaging examinations performed in patients with PH1. a Spot-like high-density imaging was found in bilateral kidneys on X-ray in patient II. b Signal of bilateral renal parenchyma increased diffusely on MRI T2WI in patient III. c The density of bilateral kidneys significantly increased on X-ray in patient IV. d CT scan in patient V showed under illumination of the contour bilateral renal contour, density of bilateral renal cortex significantly increased and multiple spotted high-density imaging in bilateral renal medulla (arrows)
Fig. 2
Fig. 2
Renal histopathological examination in patient I. a Large amount of oxalate crystals in renal tubules for hematoxylin and eosin staining (white arrows, 10 ×). b Sclerosing glomerulus was observed for periodic acid Schiff staining (white arrows, 10 ×)
Fig. 3
Fig. 3
Peak map of AGXT gene sequencing in patient I with PH1. a AGXT gene mutation c.679_680 + 2delAAgt located in the sixth exon in the proband. b AGXT gene mutation c.190A > T (p.i64f) located in the second exon in the proband. c AGXT gene mutation c.679_680 + 2delAAgt located in the sixth exon in her father. d AGXT gene mutation c.190A > T (p.i64f) located in the second exon in her mother
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