• Olena Bratnova Private higher education institute “International academy of ecology and medicine”


Introduction. In the practice of adult nephrologists there are cases of rare genetically caused kidney damage, in particular, Alport syndrome. This is due to the availability and improvement of instrumental diagnostic methods, timely approaches to treatment in pediatric practice, and prolongation of the pre-dialysis period.

Goal. Analysis and synthesis of new data from domestic and foreign sources on the etiology, pathogenesis, clinical manifestations, types of inheritance, differential diagnosis of Alport syndrome in order to improve the success of students, interns and teachers in the study of nephrological subjects.

Material and methods. Review of contemporary and foreign literary sources; techniques – description, analysis, abstracting.

Results. Alport syndrome (AS, synonym: hereditary nephritis) is non-immune genetically determined glomerulopathy caused by a mutation of genes that encode collagen type IV of basement membranes, manifested by hematuria and / or proteinuria, a progressive decreased renal function, combined with pathology of hearing and abnormalities affecting the eyes. Alport syndrome inherited type: X-linked dominant (XLAS): 85%, autosomal recessive (ARAS): 15%, autosomal dominant (ADAS): 1%.

Conclusions. Family history, electron microscopy, immunochemical analysis of type IV collagen expression are informative for verifying the diagnosis of Alport syndrome. Due to the rarity of this disease, in addition, the fact that patients often refuse kidney biopsy, it is necessary to cooperate more closely with genetic laboratories, to take measures to improve the availability of molecular analysis of mutations of collagen IV genes. In addition, it is a fact that sometimes the family history of the disease is ambiguous, unavailable for genetic analysis, and patients refuse to have a kidney biopsy. It is a motive to encourage doctors to improve their educational work with patients about safety of this analysis and its value.


Фокеева В.В. Наследственный нефрит. В кн.: Детская нефрология (руководство для врачей) /Под ред. М.С. Игнатовой, Ю.Е. Вельтищева Л.: Медицина, 1989. – с. 244-256.
Kashtan C.E, Ding J., Garosi G. et al. Alport syndrome: a unified classification of genetic disorders of col-lagen IV 345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018;93 (5):1045-1051.
Gross O., Netzer K.O., Lamberty R. et al. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome. Nephrol.Dial. Transp. 2002;17:1218-1227.
Jais J.P, Knebelmann B., Giatras I., et al. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol. 2000;11(4):649-657.
Fallerini C., Dosa L., Tita R., et al. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. Clin Genet. 2014;86(3):252-257.
Bekheirnia M.R., Reed B., Gregory M.C., et al. Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010;21(5):876-883.
Storey H., Savige J., Sivakumar V., Abbs S., Flinter F.A. COL4A3/COL4A4 mutations and features in indi-viduals with autosomal recessive Alport syndrome. J Am Soc Nephrol. 2013;24(12):1945-1954.
Deltas C., Pierides A., Voskarides K. Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant. 2013;28(12):2946-2960.
Kamiyoshi N., Nozu K., Fu X.J. et al. Genetic, Clinical, and Pathologic Backgrounds of Patients with Au-tosomal Dominant Alport Syndrome. Clin J Am Soc Nephrol. 2016;11(8):1441-1449.
Rheault M.N., Kren S.M., Hartich L.A. X-inactivation modi-fies disease severity in female carriers of murine X-linked Alport syndrome. Nephrol.Dial. Transp. 2010;25:764-769
OMIM. Online Mendelian Inheretence in Man.
Abreu-Velez, A.M. Collagen IV in Normal Skin and in Pathological Processes /A.M. Abreu-Velez, M.S. Howard //N. Am. J. Med. Sci. – 2012. – Р. 18.
Alsahli A.A., Alshahwan S.I., Alotaibi A.O., Alsaad K.O., Aloudah N., Farooqui M., Al Say­yari A.A. Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize. Saudi J Kidney Dis Transpl 2018;29:167-72
Dubey S.K. et al. Mutational analysis and genotype-pheno-type correlations in southern Indian patients with sporadic and familial aniridia // Mol. Vis. – 2015. – 21. – Р. 88-97.
How to Cite
BratnovaO. (2020). MODERN PROBLEMS OF АLPORT SYNDROME DIAGNOSIS. Actual Problems of Nephrology, 25, 21-25. Retrieved from