N Kopp1, E Leumann. 1. University Children's Hospital Zürich, Switzerland.
Abstract
BACKGROUND: The clinical course of primary hyperoxaluria (PH) is greatly variable and diagnosis is often delayed. Little is known about the overall occurrence and current prognosis. METHODS: We evaluated all known patients with PH residing and observed in Switzerland during the last 15 years with the help of a survey among Swiss nephrologists. RESULTS: Of the 25 patients observed between 7/79 and 6/94 in Switzerland, 18 were alive in 1994-14 on conservative therapy and four on renal replacement therapy (RRT). Twenty-two patients had PH type 1; the exact type was not determined in three. The estimated prevalence of PH (type 1) is 2 per million population; the minimal incidence is 1 per 100,000 live births. Diagnosis was delayed by 8 years (median) except in infants. Five patients were pyridoxine sensitive. According to life table analysis, 20% of patients were in end-stage renal failure (ESRF) and 10% had died by the age of 15 years, and 50% were in ESRF and 20% dead at 25 years. Prognosis has improved: Five of 13 patients died during the first half of the observation period as opposed to two of 20 in the second part. CONCLUSIONS: Overall prognosis appears better than hitherto believed considering the large clinical spectrum of PH. Greater awareness of PH is needed to improve further long-term prognosis.
BACKGROUND: The clinical course of primary hyperoxaluria (PH) is greatly variable and diagnosis is often delayed. Little is known about the overall occurrence and current prognosis. METHODS: We evaluated all known patients with PH residing and observed in Switzerland during the last 15 years with the help of a survey among Swiss nephrologists. RESULTS: Of the 25 patients observed between 7/79 and 6/94 in Switzerland, 18 were alive in 1994-14 on conservative therapy and four on renal replacement therapy (RRT). Twenty-two patients had PH type 1; the exact type was not determined in three. The estimated prevalence of PH (type 1) is 2 per million population; the minimal incidence is 1 per 100,000 live births. Diagnosis was delayed by 8 years (median) except in infants. Five patients were pyridoxine sensitive. According to life table analysis, 20% of patients were in end-stage renal failure (ESRF) and 10% had died by the age of 15 years, and 50% were in ESRF and 20% dead at 25 years. Prognosis has improved: Five of 13 patients died during the first half of the observation period as opposed to two of 20 in the second part. CONCLUSIONS: Overall prognosis appears better than hitherto believed considering the large clinical spectrum of PH. Greater awareness of PH is needed to improve further long-term prognosis.
Authors: Bernd Hoppe; Patrick Niaudet; Rémi Salomon; Jérôme Harambat; Sally-Anne Hulton; William Van't Hoff; Shabbir H Moochhala; Georges Deschênes; Elisabeth Lindner; Anna Sjögren; Pierre Cochat Journal: Pediatr Nephrol Date: 2016-12-06 Impact factor: 3.714
Authors: Prince Singh; Lisa E Vaughan; Phillip J Schulte; David J Sas; Dawn S Milliner; John C Lieske Journal: Am J Kidney Dis Date: 2022-03-16 Impact factor: 11.072