What is Primary Hyperoxaluria Type 1 (PH1)? 

Primary Hyperoxaluria (PH1) is a rare genetic disorder caused by a defect in a peroxisomal enzyme in the liver. It is characterised by the formation of kidney stones and calcium deposits due to the accumulation of calcium oxalate in the urine, a familial metabolic condition. 

While it can present in early childhood, PH1 can also appear later in life. The disease leads to the buildup of calcium oxalate deposits in the kidneys and other organs, potentially causing kidney damage, renal failure, and damage to other organs. 

PH1 is a highly heterogeneous disease. Even family members with the same genotype may exhibit different symptoms and signs. Early diagnosis and treatment are crucial for halting the progression of some types of the disease and managing it effectively. As PH1 progresses, patients may require dialysis and in cases of end-stage renal failure, liver and kidney transplantation may be necessary. 

Source: 

KDIGO: https://kdigo.org/wp-content/uploads/2018/10/Nomenclature-Conference-Report.pdf