KIDNEY PATHOLOGY IN ORPHAN DISEASES IN CHILDREN
12.10.2023
International Scientific Journal "Science and Innovation". Series D. Volume 2 Issue 10
Akhmedova Dilorom Ilkhamovna, Abidova Malikakhon Davronovna
Abstract. The article discusses the problem of kidney pathology that occurs in orphan diseases in children. Orphan diseases are rare genetic or congenital disorders that affect a small group of patients. The article is based on a review of the literature and studies conducted in the field of kidney pathology in children with orphan diseases. It discusses various types of orphan diseases that can lead to the development of kidney pathology, such as Polander syndrome, Alport syndrome, Fanconi syndrome and others. The article describes the main clinical manifestations of kidney pathology in orphan diseases in children, such as proteinuria, hematuria, hypertension and impaired renal function. In conclusion, the article emphasizes the importance of early diagnosis and timely treatment of kidney pathology in orphan diseases in children.
Keywords: kidney pathology, children, orphan diseases, pediatrics, nephrology
References:
1. Левиашвили, Жанна Гавриловна, and Надежда Дмитриевна Савенкова. "Клинико-генетические характеристики Bartter и Gitelman синдромов у детей." Нефрология 24.3 (2020): 42-53.
2. Мазанова, Н. Н., et al. "Cовременные представления о клинике, диагностике и терапии болезни Фабри." Медицинская генетика 20.6 (2021): 3-13.
3. Новиков П.В. Проблема редких (орфанных) наследственных болезней у детей в России и пути ее решения / Российский вестник перинатологии и педиатрии. 2012; 57.2: 4-8.
4. Тубулопатии у детей. Клинические рекомендации. Россия. 2016
5. Чеботарева Н.В., Цыгин А.Н., Буланов Н.М. и др. Синдром Фанкони у взрослых и детей. Клин фармакол тер 2022;31(1): 69-74 [Chebotareva N, Tsygin A, Bulanov N, et al. Fanconi syndrome in adults and children. Klinicheskaya farmakologiya i terapiya = Clin Pharmacol Ther 2022;31(1):69-74 (In Russ.)]. DOI 10.32756/ 0869-5490-2022-1-69-74
6. Bleyer AJ, Kmoch S. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney Int. 2015;88(4):676-683.
7. Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, Palsson R. Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol. 2013;28(10):1923-1942.
8. Emma A. M. Cornelissen, Elena N. Levtchenko. Renal manifestations of Fanconi syndrome in children: diagnostic workup and management / Pediatric Nephrology. 2019. https://link.springer.com/article/10.1007/s00467-018-4097-7
9. Kashtan CE. Alport syndrome and thin basement membrane nephropathy: practical approach to diagnosis, genetic counseling, and therapy. J Am Soc Nephrol. 1998;9(11):2180-2189.
10. Linhart, Aleš, et al. "An expert consensus document on the management of cardiovascular manifestations of Fabry disease." European journal of heart failure 22.7 (2020): 1076-1096.
11. Simon DB, Karet FE, Hamdan JM, et al. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996;13(2):183-188.
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