Primary hyperoxaluria Type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort
| Autor: | C. S. van Woerden, Jaap W. Groothoff, S. M. Van der Hoeven |
|---|---|
| Přispěvatelé: | Other departments, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Amsterdam Public Health, Other Research, Paediatric Nephrology |
| Rok vydání: | 2012 |
| Předmět: |
Adult
Male medicine.medical_specialty Pediatrics Delayed Diagnosis Adolescent DNA Mutational Analysis Renal function urologic and male genital diseases End stage renal disease Cohort Studies Primary hyperoxaluria Young Adult Humans Medicine Age of Onset Young adult Child Genetic Association Studies Transaminases Netherlands Transplantation business.industry Infant Newborn Infant Middle Aged medicine.disease female genital diseases and pregnancy complications Surgery Nephrology Child Preschool Hyperoxaluria Primary Cohort Kidney Failure Chronic Female Nephrocalcinosis Age of onset business Cohort study |
| Zdroj: | Nephrology, dialysis, transplantation, 27(10), 3855-3862. Oxford University Press |
| ISSN: | 1460-2385 0931-0509 |
| Popis: | Background. Primary hyperoxaluria Type 1, an inherited disorder with increased endogenous oxalate production, leads to the development of urolithiasis, nephrocalcinosis and end-stage renal disease (ESRD). Contrary to the general belief that patients diagnosed during adulthood experience a relatively mild course of disease, we were confronted with several cases of ESRD caused by previously undiagnosed primary hyperoxaluria. Methods. To study renal and patient survival in relation with genotype, age at onset of disease and therapeutic delay, we performed a nationwide search among all Dutch nephrologists and paediatric nephrologists. Results. Of the 79 included patients, 38% was diagnosed at an adult age. ESRD was present at the time of diagnosis in 26% of paediatric diagnosed patients versus 52% of adult-diagnosed patients (P = 0.021). Homozygosity for the pyridoxine-responsive p.Gly170Arg or p.Phe152Ile genotype was found in 26% of paediatric diagnosed patients versus 68% of adult-diagnosed patients (P < 0.001). Of homozygous p.Gly170Arg or p.Phe152Ile patients, 48% developed ESRD at a median age of 37 years, compared with 48% in those with other mutations at a median age of 0.5 years (P < 0.001). Of the 16 patients found through family screening, 81% had a preserved renal function. Conclusions. The high prevalence of pyridoxine-responsive genotypes and favourabl prognosis of timely treatment warrant early diagnostic screening for primary hyperoxaluria Type 1 in patients with recurrent urolithiasis. This will preserve kidney function and prevent diagnosis of adult diagnosed patients in ESRD. |
| Databáze: | OpenAIRE |
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