Primary hyperoxaluria type I: an underestimated cause of nephrocalcinosis and chronic renal failure in Saudi Arabian children
Annals of Saudi Medicine. 1999; 19 (1): 4-7
in English
| IMEMR
| ID: emr-116528
ABSTRACT
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. Patients and 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:
Search on Google
Index:
IMEMR (Eastern Mediterranean)
Main subject:
Child
/
Kidney Failure, Chronic
/
Nephrocalcinosis
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Ann. Saudi Med.
Year:
1999
Similar
MEDLINE
...
LILACS
LIS