[Primary hyperoxaluria].

[primary hyperoxaluria type 1]

Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism . They are responsible for progressive renal involvement , which further lead to systemic oxalate deposition , which can even occur in infants . Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency , a hepatic peroxisomal pyridoxin-dependent enzyme . Therefore primary hyperoxaluria type 1 is responsible for hyperoxaluria leading to aggressive stone formation and nephrocalcinosis . As glomerular filtration rate decreases , systemic oxalate storage occurs throughout all the body , and mainly in the skeleton . The diagnosis is first based on urine oxalate measurement , then on genotyping , which may also allow prenatal diagnosis to be proposed . Conservative measures -Â including hydration , crystallization inhibitors and pyridoxine Â - are safe and may allow long lasting renal survival , provided it is given as soon as the diagnosis has been even suspected . No dialysis procedure can remove enough oxalate to compensate oxalate overproduction from the sick liver , therefore a combined liver and kidney transplantation should be planned before advanced renal disease has occurred , in order to limit /avoid systemic oxalate deposition . In the future , primary hyperoxaluria type 1 may benefit from hepatocyte transplantation , chaperone molecules , etc .

Diseases
Validation

Diseases presenting "common form" symptom

achondroplasia

alexander disease

benign recurrent intrahepatic cholestasis

cadasil

child syndrome

classical phenylketonuria

cutaneous mastocytosis

erythropoietic protoporphyria

familial mediterranean fever

hereditary cerebral hemorrhage with amyloidosis

hodgkin lymphoma, classical

holt-oram syndrome

homocystinuria without methylmalonic aciduria

oral submucous fibrosis

pendred syndrome

primary hyperoxaluria type 1

severe combined immunodeficiency

thoracic outlet syndrome

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