The primary hyperoxalurias: A practical approach to diagnosis and treatment.
Although the primary hyperoxalurias (PH) are rare disorders, they are of considerable clinical importance in relation to calcium oxalate urolithiasis and as a cause of renal failure worldwide. Three distinct disorders have been described at the molecular level. The investigation of any child or adult presenting with urinary tract stones or nephrocalcinosis, must exclude PH as an underlying cause. This paper provides a practical approach to the investigation and diagnosis of PH, indicating the importance of distinguishing between the PH types for the purposes of targeting appropriate therapy. Conservative management is explored and the various transplant options are discussed.
Birmingham Children's Hospital NHS Trust, Steelhouse Lane, Birmingham, B4 6NH, UK. Electronic address: sally.hulton@bch.nhs.uk.
Sally-Anne
SA
Hulton
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D019468:Disease Management; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications / Q000628:therapy / Q000652:urine*; D008297:Male; D009397:Nephrocalcinosis / Q000209:etiology / Q000652:urine; D053040:Nephrolithiasis / Q000209:etiology / Q000652:urine; D010070:Oxalates / Q000652:urine; D051437:Renal Insufficiency / Q000209:etiology / Q000652:urine; D014545:Urinary Calculi / Q000209:etiology / Q000652:urine
D010070:Oxalates
Calcium oxalate; Nephrocalcinosis; Primary hyperoxaluria; Renal stone; Urolithiasis