Renal function can be impaired in children with primary hyperoxaluria type 3

Abstract

We found that the GFR was significantly impaired in two of our seven patients with PH3 diagnosed during childhood. This finding is in contrast to the early-impaired renal function in PH1 and PH2 and appears to refute to preliminary reassuring data on renal function in PH3.

HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients

“…This is in contrast to the previous data reporting a favorable outcome in PH3 . However, our results were similar to the study of Allard et al , where reported two patient experienced impaired glomerular filtration rates (GFR), with chronic kidney disease (CKD) stage 2 occurring early during childhood in a three several affected patients in the context of a homozygous HOGA1 mutation (p.Pro190Leu) together with a heterozygous AGXT mutation (p.Asp201Glu) . Thus, demonstrating the triallelic inheritance, defined as the presence of a disease‐modulating heterozygous AGXT mutation.…”

“…The p.Gly287Val was found in most reported studies in the heterozygous state and in one case reported recently in homozygous state . The p.Gly287Val mutation has been identified in five Ashkenazi Jewish PH3 probands and in a Caucasian patient . The p.Gly287Val mutation was associated with the c.469‐31T>C polymorphism in intron 6, reported with a frequency equal to 0.07 in GMAF.…”

“…On the other hand, the p.Gly287Val mutation was identified in two patients, one in homozygous state and the other in heterozygous state. The p.Gly287Val was found in most reported studies in the heterozygous state and in one case reported recently in homozygous state . The p.Gly287Val mutation has been identified in five Ashkenazi Jewish PH3 probands and in a Caucasian patient .…”

“…Also, this study expanded the number of PH3 patients from 63 to 66 cases. In fact, Belostotsky et al (14) made the first description of HOGA1 gene mutations in PH3 patients in 2010, following by other five publications that have focused on this disease (7,9,11,12,15).…”

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria

“…PH3 (MIM #613616) is caused by mutations in the HOGA1 gene (MIM*613597), that encodes the mitochondrial enzyme 4-hydroxy-2-oxoglutarate aldolase (HOGA), catalysing the final step of 4-hydroxy-2-oxoglutarate catabolism to glyoxylate and pyruvate [9]. The age at onset of signs and symptoms is similar to those of PH1 and PH2, but in most PH3 patients a clinical remission is observed in the adult, despite the persistence of high oxalemia and oxaluria levels [10,11].…”