We report on 24 children (10 girls) presenting with primary hyperoxaluria. The mean age at diagnosis was 6.3 years (range: 3 months-14.8 years). The mean interval between initial symptom and diagnosis was 1.3 year. The average follow-up period was 22 months (range: 1-60 months). At the time of diagnosis the renal function was normal in 6 children, moderately altered in 1 and severely in 17. During the follow-up the renal function remained stable in 6 patients, improved in 2, deteriorated in 4. The 12 patients with end-stage renal disease at diagnosis remained unchanged. Urolithiasis were present in all patients older than 2 years, and in 1 among the 5 infants. Medullary nephrocalcinosis was observed in 3 patients in whom the renal function was preserved. Diffuse nephrocalcinosis was present in all patients with end-stage renal failure. Improvement of renal function was secondary to stone removal in 2 patients. Extracorporeal shock wave lithotripsy performed in 7 patients was efficient only in 3. In 10 patients oxalate bone disease was correlated with both renal function and dialysis duration, whereas retinal involvement noted in 6 patients was not.
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JCI Insight
January 2025
Division of Nephrology, Department of Medicine, Vanderbildt University Medical Center, Nashville, United States of America.
Urinary obstruction causes injury to the renal medulla, impairing the ability to concentrate urine, and increasing the risk of progressive kidney disease. However, the regenerative capacity of the renal medulla after reversal of obstruction is poorly understood. To investigate this, we developed a mouse model of reversible urinary obstruction.
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January 2025
Zhongda Hospital, School of Life Sciences and Technology, Advanced Institute for Life and Health, Southeast University, Nanjing 210096, China.
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January 2025
Cytel, Inc., Waltham, MA, USA.
Introduction: Fabry disease (FD) is a rare lysosomal storage disorder that is associated with pain and progressive damage to the renal, cardiac, and cerebrovascular systems. Enzyme replacement therapy (ERT) is one of the treatment options for FD and the most recently approved ERT agent, pegunigalsidase alfa, has shown clinical efficacy in three phase 3 clinical trials of adults with FD: BALANCE, BRIDGE, and BRIGHT. Recent published guidelines support the mapping of health utility state data to the EuroQol-5 Dimension-3 Level (EQ-5D-3L) index to align with the preferred methodology used by the National Institute for Health and Care Excellence (NICE).
View Article and Find Full Text PDFDokl Biochem Biophys
January 2025
Affiliated Hospital of Hebei University, 071000, Baoding City, Hebei Province, China.
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View Article and Find Full Text PDFJ Nephrol
January 2025
Department of Nephrology, Osaka Habikino Medical Center, Habikino, Osaka, Japan.
We present a rare case of a patient with co-occurring exercise-induced acute kidney injury (AKI) and rhabdomyolysis. A 67-year-old man was referred to our department with AKI. Five days before referral, the patient had sudden-onset loin pain while banging and kicking on a door in a holding cell at a police station.
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