Rare Diseases Symptoms Automatic Extraction

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 presenting "long-term results" symptom

  • cholangiocarcinoma
  • dystrophic epidermolysis bullosa
  • hirschsprung disease
  • papillon-lefèvre syndrome
  • primary hyperoxaluria type 1
  • von hippel-lindau disease

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