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hyperoxaluria

Autosomal recessive disorder in which homozygotes develop urolithiasis. It is the most aggressive stone disease. Etiology: 1) primary (genetic disorder) 2) secondary a) ethylene glycol b) methoxyflurane c) high doses of ascorbic acid d) vitamin B6 deficiency e) malabsorption syndromes - excessive gut absorption in patients with steatorrhea - small bowel resection (Crohn's disease etc) - orlistat f) almonds, almond milk* g) absence of colonic Oxalobacter formigenes [8] * oxalate in almonds > soy bean > rice Epidemiology: - rare, type-1 Genetics: 1) 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 2) 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 3) type 3: associated with defects in HOGA1 - no ESRD Clinical manifestations: 1) calcium oxalate may precipitate in the kidneys 2) 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: 1) fluids 2) pyridoxine (vitamin B6)* - 5-20 mg/kg/day for primary hyperoxaluria [2] 3) low oxalate diet 4) calcium carbonate or calcium citrate 1-2 g with meals 5) cholestyramine 4 g with meals (enteric hyperoxaluria) 6) alkalinize urine - limit ingestion of vitamin C & cranberry juice [4,5] 7) inhibitors of stone formation - potassium citrate 20-30 mq BID [2] - magnesium (magnesium hydroxide, magnesium oxide) 8) lumasiran (Oxlumo) for treatment of primary hyperoxaluria type 1 9) liver transplantation for genetic hyperoxaluria types 1 & 2 10) 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

Interactions

disease interactions

Related

interstitial nephritis urinary calculus (stone, nephrolithiasis, urolithiasis)

Specific

intestinal (enteric) hyperoxaluria

General

kidney disease; renal disease metabolic disease

Database Correlations

OMIM correlations

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 616
  2. Medical Knowledge Self Assessment Program (MKSAP) 11, 17. American College of Physicians, Philadelphia 1998, 2015
  3. Ellis D, Lieb J. Hyperoxaluria and genitourinary disorders in children ingesting almond milk products. J Pediatr 2015 Sep 14 PMID: 26382627
  4. Shekarriz B, Schwartz BF Medsacpe: Hyperoxaluria http://emedicine.medscape.com/article/444683-overview
  5. 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: 11164137
  6. 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: 23597595 Free Article
  7. Jiang D, Geng H (radiograph) Primary Hyperoxaluria N Engl J Med 2017; 376:e33. April 13, 2017 PMID: 28402768 http://www.nejm.org/doi/full/10.1056/NEJMicm1609986
  8. Massey LK Food Oxalate: Factors affecting measurement, biological variation, and bioavailability. J Am Diet Assoc. 2007 Jul;107(7):1191-4 PMID: 17604750