Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder


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Abstract

Primary hyperoxaluria is a group ofrare inherited diseases characterized by impaired oxalate metabolism with the early manifestation of urolithiasis and the development of the chronic kidney disease. The mutations in the AGXT, GRHPR, HOGA1 genes are attributable for different types of primary hyperoxaluria leading to the dysfunction of specific enzymes involved in the oxalate metabolism. The article summary the current data on the epidemiology, genetic and biochemical aspects of pathogenesis of the primary hyperoxaluria types 1-3. The variety of clinical signs and disease severity depend on the type of hyperoxaluria.

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About the authors

T. V. Filippova

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: dr.filippova@mail.ru
MD, professor at the Department of Medical Genetics Moscow, Russia

D. V Svetlichnaya

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University); Moscow Regional Research and Clinical Institute (MONIKI)

Email: div.swet@gmail.com
Ph.D. student at the Department of Medical Genetics; geneticist Moscow, Russia

V. I Rudenko

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: rudenko-vadim@rambler.ru
MD, professor at the Institute of Urology and Reproductive Health Moscow, Russia

Y. G Alyaev

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: ugalyaev@mail.ru
corresponding member of RAS, MD, professor at the Institute of Urology and Reproductive Health Moscow, Russia

E. G. Tadevosyan

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: erik69725@gmail.com
student, student's scientific circle in medical genetics, the Department of Medical Genetics Moscow, Russia

M. M Azova

Peoples’ Friendship University of Russia (RUDN University)

Email: azovam@mail.ru
Ph.D. in biology, professor, Head of the Department of Biology and General Genetics Moscow, Russia

T. I Subbotina

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: subbotina@1msmu.ru
Ph.D., associate professor at the Department of Medical Genetics Moscow, Russia

Z. K Gadzhieva

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: zgadzhieva@ooorou.ru
MD, urologist at the UKB №2, scientific editor of Journal «Urologia», Deputy Director of ROU for work with regions Moscow, Russia

A. Y Asanov

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: aliy@rambler.ru
MD, professor, Head of the Department of Medical Genetics Moscow, Russia

K. R Khamidullin

Bashkortostan City clinical hospital No. 21

Email: Kamil.urolog@gmail.com
doctor of urology, Department of the Republic Ufa, Russia

A. M Pushkarev

G.G. Kuvatov Republican Clinical Hospital

Email: Pushkar967@yandex.ru
Dr.Med.Sci., Prof., Head of the Department of Urology Ufa, Russia

M. M. Litvinova

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University; Loginov Moscow Clinical Scientific Center of Moscow Health Department

Email: litvinova@gmail.com
Ph.D., associate professor at the Department of Medical Genetics; geneticist Moscow, Russia

References

  1. Filippova T.V., Litvinova M.M. et al. Genetic factors for monogenic forms of calcium urolithiasis.Urologiia. 2018;(4): 154-160 (Т.В. Филиппова, М.М. Литвинова, В.И. Руденко и соавт. Генетические факторы моногенных форм кальциевого уролитиаза. Урология. 2018;4: 154-160).
  2. Vasmi Sodimbaru, Latha Pujari. Urolithiasis - an update review over Genetics, Pathophysiology and its clinical management. International journal of Pharmacy and Pharmaceutical Sciences. 2014;6(Issue 11): 24-31.
  3. Sas D.J., Harris P.C., Milliner D.S. Recent advances in the identification and management of inherited hyperoxalurias. Urolithiasis. 2019;47(1): 79-89.
  4. Archer H.E., Dormer A.E., Scowen E.F., Watts R.W. P-rimary hyperoxaluria. Lancet (London, England) 1957; 273(6990):320-22.
  5. Danpure C.J., Jennings P. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Letters. 1986;201(1): 20-34.
  6. Purdue P.E., Takada Y., Danpure C.J. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/ glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol. 1990;111(6 Pt 1):2341-2351.
  7. Williams H.E., Smith L.H. Jr. L-glycericaciduria. A new genetic variant of primary hyperoxaluria. N Engl J Med. 1968;278(5):233-238.
  8. Cramer S., Ferree P.M. et al. The gene encoding hydroxypyruvatereductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Human Molecular Genetics. 1999 8(11):2063-2069.
  9. Belostotsky R., Seboun E., Idelson G.H., Milliner D.S. et al. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet. 2010;87(3):392-399.
  10. Европейский консорциум по гипероксалурии OxalEurope [Электронный ресурс]. Режим доступа: https://www.oxaleurope.org (02.06.2019).
  11. Mandrile G., Van Woerden C.S., Berchialla P., et al. Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int. 2014;86(6):1197- 1204.
  12. Lorenzo V., Torres A., Salido E. Hiperoxaluria primaria. Nefrologia 2014;34(3):398-412.
  13. Compagnon P., Metzler P., Samuel D., et al. Long-Term Results of Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 1: The French Experience. 2014:1475-1485.
  14. Hoppe B., Latta K., Von Schnakenburg C., Kemper M.J. Primary hyperoxaluria - The German experience. Am. J. Nephrol. 2005;25(3): 276-281.
  15. Van Woerden C.S. Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol. Dial. Transplant. 2003;18(2):273-279.
  16. Van Der Hoeven S.M., Van Woerden C.S., Groothoff J.W. Primary hyperoxaluria Type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: Results of the Dutch cohort. Nephrol. Dial. Transplant. 2012;27(10):3855-3862.
  17. Kopp N., Leumann E., Chou T. Changing pattern of primary hyperoxaluria in Switzerland. Nephrol. Dial. Transplant. 1995;10(12): 2224-2227.
  18. Boualla L., Tajir M., Oulahiane N., et al. AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population. Genet. Test. Mol. Biomarkers 2015;19(11):623-628.
  19. Длин В.В., Османов И.М., Баширова З.Р. Новые возможности лечения дизметаболических нефропатий у детей с применением препарата Кудесан. Практика педиатра. 2010. С. 30-35.
  20. Hopp K., Cogal A.G., Bergstralh E.J. et al. Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. J. Am. Soc. Nephrol. 2015;26(10):2559-2570.
  21. Lumb M.J., Danpure C.J. Functional Synergism between the Most Common Polymorphism in Human Alanine:Glyoxylate Aminotransferase and Four of the Most Common Disease-causing Mutations. J Biol Chem. 2000;275(46):36415-36422.
  22. Danpure C.J. Molecular etiology of primary hyperoxaluria type 1: New directions for treatment. Am. J. Nephrol. 2005;25(3):303- 310.
  23. Coulter-Mackie M.B. Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype. Am. J. Nephrol. 2005;25(3):264-268.
  24. Ben-Shalom E., Frishberg Y. Primary hyperoxalurias: diagnosis and treatment. Pediatr. Nephrol. 2015;30(10):1781-1791.
  25. Fu Y., Rope R., Fargue S., Cohen H.T., Holmes R.P., Cohen D.M. A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5'UTR causing primary hyperoxaluria type II. Clin. Genet. 2015;88(5):494-498.
  26. Webster K.E., Ferree P.M., Holmes R.P., Cramer S.D. Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). Hum. Genet. 2000;107(2):176-185.
  27. Cregeen D.P., Williams E.L., Hulton S., Rumsby G. Molecular analysis of the glyoxylatereductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum. Mutat. 2003;22(6):497-497.
  28. M’dimegh S., Aquaviva-bourdain C., Omezzine A. et al. HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. J. Clin. Lab. Anal. 2017;31(3):1-5.
  29. Wang X., Zhao X., Wang X. et al. Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3. Am. J. Nephrol. 2015;42(1):78-84.
  30. Rumsby G. Genetic defects underlying renal stone disease. Int. J. Surg. 2016;36(PD):590-595.
  31. Daudon M., Jungers P., Bazin D. Peculiar Morphology of Stones in Primary Hyperoxaluria. N Engl J Med. 2008;359(1):100-102.
  32. Jacob D.E., Grohe B., Gefiner M., Beck B.B., Hoppe B. Kidney Stones in Primary Hyperoxaluria: New Lessons Learnt. PLoSOne 2013;8(8).
  33. Lepage L., Tawashi R. Growth and characterization of calcium oxalate dihydrate crystals (weddellite). J. Pharm. Sci. 1982;71(9): 1059-1062.
  34. Kurt-Sukur E.D., Ozakar Z.B., Fitoz S., Yilmaz S., Hoppe B., Yalpnkaya F. Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis. Klin. Padiatr. 2015;227(5):293-295.
  35. Bacchetta J., Boivin G., Cochat P. Bone impairment in primary hyperoxaluria: a review. Pediatr. Nephrol. 2016;31(1):1-6.
  36. Derveaux T., Delbeke P., Walraedt S., et al. Detailed Clinical Phenotyping Of Oxalate Maculopathy In Primary Hyperoxaluria Type 1 And Review Of The Literature. Retina 2016;36(11):2227-2235.
  37. Mykytiv V., Campoy Garcia F. Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals. Hematol. Oncol. Stem Cell Ther. 2017;11(2):118-121.
  38. Cazzolla A.P., Zhurakivska K., Ciavarella D. et al. Primary hyperoxaluria: Orthodontic management in a pediatric patient: A case report. Spec. Care Dent. 2018;38(4):259-226.
  39. Benhenda N., Bernard-Brunet A., Ferrandiere M., Salame E., Babuty D. Fatal short-coupled torsade de pointes in a patient with primary oxalosis. Intensive Care Med. 2013;39(10):1843-1844.
  40. Bruel A., Bacchetta J., Ginhoux T., et al. Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I. 2018 34(2):319-327.
  41. Rao N.M., Yallapragada A., Winden K.D., Saver J., Liebeskind D.S. Stroke in Primary Hyperoxaluria Type I. J. Neuroimaging 2014;24(4):411-413.
  42. Lefaki I., Papageorgiou M., Karteridou A., et al. Secondary perforating dermatosis in an infant with primary hyperoxaluria type I. Eur. J. Dermatol. 2014;24(2):254.
  43. Berini S.E., Tracy J.A., Engelstad J.K., Lorenz E.C., Milliner D.S., Dyck P.J. Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria. Muscle Nerve 2015;51(3):449-454.
  44. Murad S., Eisenberg Y. Endocrine Manifestations of Primary Hyperoxaluria. Endocr. Pract. 2017;(aop):EP-2017-0029.
  45. Marangella M., Petrarulo M., Cosseddu D. End-Stage Renal Failure in Primary Hyperoxaluria Type 2. New England Journal of Medicine. 1994;330(23):1690-1690.
  46. Allard L., Cochat P., Leclerc A.-L., et al. Renal function can be impaired in children with primary hyperoxaluria type 3. Pediatr. Nephrol. 2015;30(10):1807-1813.
  47. Oppici E., Dindo M., Conter C., Borri Voltattorni C., Cellini B. Folding Defects Leading to Primary Hyperoxaluria. Handbook of Experimental Pharmacology. 2017;313-343.
  48. Brunetti-Pierri N., Ng P. Gene therapy with helper-dependent adenoviral vectors: lessons from studies in large animal models. Virus Genes. 2017;53(5):684-691.

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