Primary hyperoxaluria type 1: An underestimated cause of nephrocalcinosis and chronic renal failure in Saudi Arabian children.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type I (PHI ) is a rare metabolic disease caused by deficiency or abnormalities of the peroxisomal enzyme alanine-glyoxylate aminotransferase . In the majority of patients , the clinical expression of PHI is characterized by recurrent calcium oxalate urolithiasis , nephrocalcinosis and renal failure .Sixteen children aged 5 months to 14 years were diagnosed as PHI over a 10 -year period ending in June 1997 . The diagnosis was established by quantitative urinary oxalate excretion , or by a high urine oxalate /creatinine ratio on spot urines .The majority of patients had nephrolithiasis (13 /16 ) and /or nephrocalcinosis (12 /16 ). Four patients already had advanced chronic renal failure at the time of diagnosis . Altogether , PHI accounted for 20 % of nephrocalcinosis and 6 % of end-stage renal disease . Two patients had a complete response to pyridoxine therapy , while four patients had a partial response . Eight patients underwent organ transplantation , three underwent kidney transplantation , three received combined liver /kidney transplantation for end-stage renal disease , and two received isolated preemptive liver transplantation .Combined organ transplantation provided the best long -term results .

Diseases
Validation

Diseases presenting "partial response" symptom

cholangiocarcinoma

dedifferentiated liposarcoma

esophageal squamous cell carcinoma

hirschsprung disease

hodgkin lymphoma, classical

junctional epidermolysis bullosa

lymphangioleiomyomatosis

pleomorphic liposarcoma

primary hyperoxaluria type 1

severe combined immunodeficiency

waldenström macroglobulinemia

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