Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

[primary hyperoxaluria type 1]

Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism , caused by a deficiency of the liver -specific enzyme alanine :glyoxylate aminotransferase . The disorder results in overproduction and excessive urinary excretion of oxalate , causing recurrent urolithiasis and nephrocalcinosis . As glomerular filtration rate declines due to progressive renal involvement , oxalate accumulates leading to systemic oxalosis . The diagnosis is based on clinical and sonographic findings , urine oxalate assessment , enzymology and /or DNA analysis . Early initiation of conservative treatment (high fluid intake , pyridoxine , inhibitors of calcium oxalate crystallization ) aims at maintaining renal function . In chronic kidney disease Stages 4 and 5 , the best outcomes to date were achieved with combined liver -kidney transplantation .

Diseases
Validation

Diseases presenting "renal function" symptom

aniridia

cholangiocarcinoma

cystinuria

erdheim-chester disease

fabry disease

familial hypocalciuric hypercalcemia

junctional epidermolysis bullosa

kabuki syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

primary hyperoxaluria type 1

scrub typhus

systemic capillary leak syndrome

von hippel-lindau disease

waldenström macroglobulinemia

wolf-hirschhorn syndrome

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