Autopsy Findings in an Infant with Primary Hyperoxaluria (Type-1)
AbstractHistopathological findings in oxalosis patient are limited in the literature, although it has high mortality. Oxalosis, which is defined as deposition of calcium oxalate crystals in tissues, is the final stage of various hyperoxaluric syndromes. It is often missed and is rare. The diagnosis is often delayed, since it requires special laboratory tests for establishing the diagnosis. Kidneys, blood vessel walls, and bones are the major sites for crystal deposition. We present an infant autopsy case of primary hyperoxaluria, type 1. Diagnosis was established with genetic testing. On autopsy, calcium oxalate crystals which were refringent to polarized light were found in both kidneys.
Brenner MB. Renal Pathology with Clinical and Functional Correlations, 2nd ed. Philadelphia: J.B. Lippincott Company, 1989.
Cochat P. Primary hyperoxaluria type I. Kidney Int 1999;55:2533– 2547.
Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet 1999;8:2063– 2069.
Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet 2010; 87: 392-399.
Jamieson NV. European PHI Transplantation Study Group. A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): the European PH1 transplant registry experience 1984–2004. Am J Nephrol 2005;25:282–289.
Milliner DS. The primary hyperoxalurias: an algorithm for diagnosis. Am J Nephrol 2005;25:154–160.
Hoppe B, Langman CB. A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria. Pediatr Nephrol 2003;18:986–991.
Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N. Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique. Nephrol Dial Transplant 1995; 10 Suppl 8: 3-7
Van Woerden CS, Groothoff JW, Wanders RJ, Davin JC, Wijburg FA. Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant 2003; 18: 273-279
Cochat P, Liutkas A, FargueS, Basmaison O, Ranchin B,Rolland MO. Primary hyperoxaluria type 1: still challenging!Pediatric Nephrol. 2006;21:1075-1081.
Harambat J, Farque S, Bachetta J, Acquaviva C, Cochat P.Primary hyperoxaluria. Int J Nephrol. 2011;2011:864580.
Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A,Salido E, Waterham H, Rumsby G. Primary hyperoxaluriatype 1: update and additional mutation analysis of the AGXTGene. Human Mutation. 2009;30(6): 910-917.
Pey AL, Salido E, Sanchez-Ruiz JM. Role of low native statekinetic stability and interaction of partially unfolded stateswith molecular chaperones in the mitochondrial protein mistargetingassociated with primary hyperoxaluria. Amino Acids.2011;41:1233-1245.
Oppici E, Montioli R, Lorenzetto A, Bianconi S, BoltattorniCB, Cellini B. Biochemical analyses are instrumental in identifyingthe impact of mutations on holo and/or apo-forms andthe region(s) of alanine-glyoxylate aminotransferase variants associated with primary hyperoxaluria type 1. Mol GenetMetab. 2012;105(1):132-40.
Falk N, Castillo B, Gupta A, McKelvy B, Bhattacharjee M, Papasozomenos S. Primary hyperoxaluria type 1 with systemic calcium oxalate deposition: case report and literature review. Annals of Clinical & Laboratory Science. 2013 Jun 20;43(3):328-31.
Yu SL, Gan XG, Huang JM, Cao Y, Wang YQ, Pan SH, Ma LY,Teng YQ, An RH. Oxalate impairs aminophospholipid translocaseactivity in renal epithelial cells via oxidative stress: implicationsfor calcium oxalate urolithiasis. The Journal of Urology.2011;186:1114-1120.
Mookadam F, Smith T, Jiamsripong P, Moustafa SE, MonicoCG, Lieske JC, Milliner DS. Cardiac abnormalities in primaryhyperoxaluria. Circulation Journal. 2010;74:2403-2409.
Fishbein GA, Micheletti RG, Currier JS, Singer E, FishbeinMC. Atherosclerotic oxalosis in coronary arteries. CardiovascPathol. 2008;27(2):117-123.
Mulay SR, Anders HJ: Crystal nephropathies: mechanisms of crystal-induced kidney injury. Nat Rev Nephrol 2017; 13: 226–240.
Spasovski G, Beck BB, Blau N, Hoppe B, Tasic V. Late diagnosisof primary hyperoxaluria after failed kidney transplantation.Int Urol Nephrol. 2010;42:825-829.
Lorenzo V, Torres A, Salido E. Primary hyperoxaluria. Nefrologia2014; 34: 398-412
Fayemi AO, Ali M, Braun EV. Oxalosis in hemodialysis patients: a pathologic study of 80 cases. Arch Pathol Lab Med 1979;103:58–62.
Doganavsargil B, Akil I, Sen S, Mir S, Basdemir G. Autopsy findings of a case with oxalosis. Pediatric and Developmental Pathology. 2009 May;12(3):229-32.
Haqqani MT. Crystals in brain and meninges in primary hyperoxaluria and oxalosis. Journal of clinical pathology. 1977 Jan 1;30(1):16-8.
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