Mutations in the genes AGXT  and GRHPR cause PH1 and PH2, respectively, through decreased production or activity of the proteins they make, which stops the normal breakdown of glyoxylate. Similarly, mutations in the gene HOGA1 cause PH3 due to loss-of-function mutations resulting in impaired protein function.PH1 is considered to be the most common and rapidly progressing form, accounting for about 80% of all currently diagnosed cases and PH2 and PH3 accounting for approximately 10% each of the current cases. However, recent evidence has suggested that PH2 and PH3 are not as benign as previously thought, with up to 50% of patients with PH2 developing kidney failure (chronic kidney disease [CKD] stage 5). While current estimates indicate that kidney failure is rarer in patients with PH3 compared to PH1 and PH2, CKD has been reported in patients with PH3. Moreover, the genetic prevalence based on known PH3 variants is much higher than the diagnosed prevalence of the disease, which could mean either incomplete penetrance (i.e. variant present with no clinical symptoms) or underdiagnosis (i.e. variant present with clinical symptoms but not diagnosed). Treatment
Increased water intake and alkalinization of urine is advised to prevent oxalate precipitation in urinary tract. In addition, Vitamin B6 (pyridoxine) is used to treat PH1 because alanine glyoxylate transaminase requires pyridoxine as cofactor. In approximately one third of patients with PH1, pyridoxine treatment decreases oxalate excretion and prevent kidney stone formation.
This education should include educating caretakers on how to recognize choking and perform first aid and cardiopulmonary resuscitation, check for warning labels and toy recalls, and avoid high risk objects and foods.Thanks to numerous public advancements, such as the Child Safety Protection Act and the Federal Hazardous Substance Act (FHSA), warning labels for choking hazards are required on packaging for small balls, marbles, balloons, and toys with small parts when these are intended for use by children in at-risk age groups. Also, the Consumer Product Safety Improvement Act of 2008 amended the FHSA to also require advertisements on websites, catalogues, and other printed materials to include the choking hazard warnings. == References ==