hyperoxaluria
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Introduction
Autosomal recessive disorder in which homozygotes develop urolithiasis. It is the most aggressive stone disease.
Etiology
- primary (genetic disorder)
- secondary
- ethylene glycol
- methoxyflurane
- high doses of ascorbic acid
- vitamin B6 deficiency
- malabsorption syndromes
- excessive gut absorption in patients with steatorrhea
- orlistat
- almonds, almond milk*
- absence of colonic Oxalobacter formigenes[8]
* oxalate in almonds > soy bean > rice
Epidemiology
- rare, type-1
Genetics
- type 1:
- autosomal recessive
- associated with defects in AGXT[7]
- pyridoxine is a cofactor
- glycolic aciduria & oxalic aciduria
- 1 per 120,000 live births
- ESRD generally in childhood
- type 2:
- glyoxylate reductase/hydroxypyruvate reductase deficiency
- glyceric aciduria & oxalic aciduria
- much less common than type 1
- ESRD is slightly less common than in type 1
- type 3: associated with defects in HOGA1
- no ESRD
Clinical manifestations
- calcium oxalate may precipitate in the kidneys
- end-stage renal disease may develop by age 20
Laboratory
- 24 hour urine oxalate
- 24 hour urine calcium
- 24 hour urine citrate
- 24 hour urine potassium
- 24 hour urine magnesium
- 24 hour urine phosphate
- 24 hour urine sodium
- 24 hour urine uric acid
- 24 hour urine volume
- serum calcium
- serum creatinine
- GRHPR gene mutation
Radiology
- plain radiograph may show renal stones, ureteral stones & bladder stones[7] (radiograph ref 7)
- renal ultrasound
- primary radiology diagnostic tool in pregnant patients
- computed tomography without contrast to identify nephrolithiasis
- intravenous pyelography offers best view of upper urinary tract & ureteral anatomy
- contraindicated if serum creatinine > 2.0 mg/dL
- possible nephrotoxicity & allergy to the injected contrast
Management
- fluids
- pyridoxine (vitamin B6)*
- 5-20 mg/kg/day for primary hyperoxaluria[2]
- low oxalate diet
- calcium carbonate or calcium citrate 1-2 g with meals
- cholestyramine 4 g with meals (enteric hyperoxaluria)
- alkalinize urine
- limit ingestion of vitamin C & cranberry juice[4][5]
- inhibitors of stone formation
- lumasiran (Oxlumo) for treatment of primary hyperoxaluria type 1
- liver transplantation for genetic hyperoxaluria types 1 & 2
- uncertain recommendations
- orthophosphates (Neutra-Phos)
* pyridoxal phosphate appears to ameliorate deficiency of the liver-specific pyridoxal-phosphate-dependent peroxisomal enzyme alanine:glyoxylate aminotransferase[6]; it is not expected to have any benefit for diet-associated hyperoxaluria
More general terms
More specific terms
Additional terms
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 616
- ↑ 2.0 2.1 2.2 Medical Knowledge Self Assessment Program (MKSAP) 11, 17. American College of Physicians, Philadelphia 1998, 2015
- ↑ Ellis D, Lieb J. Hyperoxaluria and genitourinary disorders in children ingesting almond milk products. J Pediatr 2015 Sep 14 PMID: https://www.ncbi.nlm.nih.gov/pubmed/26382627
- ↑ 4.0 4.1 Shekarriz B, Schwartz BF Medsacpe: Hyperoxaluria http://emedicine.medscape.com/article/444683-overview
- ↑ 5.0 5.1 Terris MK; Issa MM; Tacker JR Dietary supplementation with cranberry concentrate tablets may increase the risk of nephrolithiasis. Urology. 2001; 57(1):26-9 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11164137
- ↑ 6.0 6.1 Fargue S, Rumsby G, Danpure CJ. Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1. Biochim Biophys Acta. 2013 Oct;1832(10):1776-83. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23597595 Free Article
- ↑ 7.0 7.1 7.2 Jiang D, Geng H (radiograph) Primary Hyperoxaluria N Engl J Med 2017; 376:e33. April 13, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28402768 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMicm1609986
- ↑ 8.0 8.1 Massey LK Food Oxalate: Factors affecting measurement, biological variation, and bioavailability. J Am Diet Assoc. 2007 Jul;107(7):1191-4 PMID: https://www.ncbi.nlm.nih.gov/pubmed/17604750