Hyperoxaluria and Urolithiasis in Young Children: An Atypical Presentation
- 1 November 1999
- journal article
- research article
- Published by Mary Ann Liebert Inc in Journal of Endourology
- Vol. 13 (9), 633-636
- https://doi.org/10.1089/end.1999.13.633
Abstract
Urolithiasis is uncommon in adolescence and rare in early childhood. In pediatric populations, congenital urinary tract anomalies associated with stasis and infection, idiopathic urolithiasis (adolescents), and nephrocalcinosis (premature infants) account for the majority of urolithiasis patients. Inborn errors of metabolism, such as the primary hyperoxalurias, are rare causes of urolithiasis in childhood. We report six children (mean age at symptom onset 1.3 years; range 0.32–4.1 years) with moderate hyperoxaluria (mean 1.10 ± 0.58 mmoL/1.73m2 per day; range 0.69−2.19 mmoL/1.73m2 per day). Urolithiasis was present in four. Stones from two children were comprised of calcium oxalate dihydrate. Calcium oxalate crystalluria was seen in two of the patients. Findings included a mean urine calcium concentration of 6.61 ± 2.28 mg/kg per day, urine citrate of 925.5 ± 291.29 mg/g of creatinine per day, and mean renal clearance of 99.83 ± 23.27 mL/min. All children were born full term, none was receiving diuretics, and none had recurrent urinary tract infections. Secondary causes of hyperoxaluria, including dietary oxalate excess, pyridoxine deficiency, and malabsorption, were excluded. Urine glycolate and glycerate were normal in all patients. In one hyperoxaluric member of each sibship, hepatic alanine-glyoxylate aminotransferase and d-glycerate dehydrogenase/glyoxylate reductase activity were normal. The clinical and biochemical features of these children are unlike those in previously recognized hyperoxaluric states. Thus, our description of a separate hyperoxaluric entity, referred to as unclassified hyperoxaluria.Keywords
This publication has 12 references indexed in Scilit:
- Conductive pathways for chloride and oxalate in rabbit ileal brush-border membrane vesiclesAmerican Journal of Physiology-Cell Physiology, 1998
- A Semiautomated Alanine: Glyoxylate Aminotransferase Assay for the Tissue Diagnosis of Primary Hyperoxaluria Type 1Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1997
- Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: A novel type of primary hyperoxaluriaKidney International, 1996
- Epidemiology of primary hyperoxaluria type 1Nephrology Dialysis Transplantation, 1995
- Results of Long-Term Treatment with Orthophosphate and Pyridoxine in Patients with Primary HyperoxaluriaThe New England Journal of Medicine, 1994
- Oxalate status in stone-formersUrological Research, 1993
- Hepatic d-glycerate dehydrogenase and glyoxylate reductase deficiency in primary hyperoxaluria type 2Biochemical Society Transactions, 1988
- Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type IFEBS Letters, 1986
- Renal Elimination Kinetics and Plasma Half-Life of Oxalate in ManUrologia Internationalis, 1979
- A Method for Enzymatic Determination of Citrate in Serum and UrineScandinavian Journal of Clinical and Laboratory Investigation, 1976