[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 "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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