Clinical analysis of 13 children with primary hyperoxaluria type 1

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.

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients

“…In the previous studies, the most frequent PH1 variants in the Chinese population were c.823_824dup, c.33dup and c.679-680 + 2del ( Coulter-Mackie and Rumsby, 2004 ; Coulter-Mackie et al, 2008 ; Du et al, 2018 ; Li et al, 2018 ; He et al, 2019 ; Lin et al, 2021 ; Zhao et al, 2021 ). In our study, pt7 was homozygous for the variant c.823_824dup and lived with stable disease.…”

A Rare Sparkle: A Case of Calcified Kidneys in a Young Infant With Renal Failure

“…PH1 should be suspected as the underlying disorder in a child with a first kidney stone or in an adult with recurrent kidney stones, an infant with failure to thrive along with impaired renal function markers, in a case of unexplained renal failure (particularly in the presence of nephrocalcinosis), presence of refractile, birefringent oxalate crystals in any bodily fluid, severe urolithiasis, and a positive family history of PH1 [5,6]. The infantile form of PH1 is known to be life-threatening particularly due to the rapid progression to mortality rate in non-infantile PH1 [7].…”

Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study

“…1 Primary hyperoxaluria type 1 (PH1), the most severe form of the disease, constitutes the majority (70%-80%) of all cases. [1][2][3] It is caused by the defects in the alanine-glyoxylate aminotransferase (AGT) gene (so-called AGXT), resulting in the prominent decrease or absence of enzyme activity. 4 Five clinical presentations of PH1 have been described so far.…”

“…As the kidneys mainly excrete oxalate, the main manifestations are nephrocalcinosis and nephrolithiasis, causing impaired kidney function that eventually progresses into kidney failure 1 . Primary hyperoxaluria type 1 (PH1), the most severe form of the disease, constitutes the majority (70%–80%) of all cases 1–3 . It is caused by the defects in the alanine‐glyoxylate aminotransferase (AGT) gene (so‐called AGXT ), resulting in the prominent decrease or absence of enzyme activity 4…”

“…Up to date, studies evaluating the clinical characteristics of paediatric PH1 including a high number of patients are scarce. Most reports demonstrate single‐centre data or are only case reports/series 1,3,9 . Therefore, we aimed to evaluate the overall demographic, clinical, and genetic characteristics, treatment modalities, and overall outcomes of paediatric PH1 patients followed up in different paediatric nephrology centres in Turkey.…”