Renal disorders in rare genetic syndromes
Keywords:
Fabry disease, Alport syndrome, De Morsier syndrome, Laurence-Moon-Bardet-Biedl syndrome, Bartter syndrome, Gitelman syndrome, tuberous sclerosis complex, cystinosis, nephronophthisisAbstract
Abstract. Genetic syndromes are of interest to physicians due to the fact that they exhibit themselves as clinically diverse and are associated with various organ damages. The paper characterizes some rare genetic syndromes with renal involvement, discusses the pathogenetic mechanisms of renal damage, their diagnostic algorithm, clinical manifestation and therapeutic behavior.
References
Devuyst O, Knoers NV, Remuzzi G, Schaefer F; Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association. Rare inherited kidney diseases: challenges, opportunities, and perspectives. Lancet. 2014 May 24;383(9931):1844-59. doi: 10.1016/S0140-6736(14)60659-0.
Паскалев Е. Справочник по нефрология, 2018, 309-320.
Pieroni M, Moon JC, Arbustini E et al. Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. J Am Coll Cardiol. 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024.
Vardarli I, Rischpler C, Herrmann K, Weidemann F. Diagnosis and Screening of Patients with Fabry Disease. Ther Clin Risk Manag. 2020 Jun 22;16:551-558. doi: 10.2147/TCRM.S247814.
Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. JAMA. 2000 Dec 6;284(21):2771-5. doi: 10.1001/jama.284.21.2771. Erratum in: JAMA 2001 Jan 10;285(2):169.
Zhang Y, Ding J. Renal, auricular, and ocular outcomes of Alport syndrome and their current management. Pediatr Nephrol. 2018 Aug;33(8):1309-1316.
Kashtan C. Alport syndrome: facts and opinions. F1000Res. 2017;6:50.
Boeckhaus J, Gale DP, Simon J, et al. SGLT2-Inhibition in Patients With Alport Syndrome. Kidney Int Rep. 2024 Sep 24;9(12):3490-3500. doi: 10.1016/j.ekir.2024.09.014.
Byrne MC, Budisavljevic MN, Fan Z, et al. Renal transplant in patients with Alport's syndrome. Am J Kidney Dis. 2002 Apr;39(4):769-75.
Kelberman D, Rizzoti K, Avilion A et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006;116:2442-2455.
Dattani MT, Robertson IC. HESX1 and septo-optic dysplasia. Rev Endocr Metab Disord. 2002;3:289-300.
Garne E, Rissmann A, Addor MC et al. Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study. Eur J Med Genet. 2018 Sep;61(9):483-488. doi: 10.1016/j.ejmg.2018.05.010. Epub 2018 May 10.
Barkovich AJ. Congenital malformations of the brain and skull. In: Barkovich AJ, ed. Pediatric neuroimaging, 4th ed. Philadelphia: Lippincott Williams & Wilkins, 2005:291-439.
Lane PH. Oligomeganephronia. In: eMedicine, consulted on July 5th 2017.
Khan OA, Majeed R, Saad M, et al. Rarity of Laurence Moon Bardet Biedl Syndrome and its poor management in the Pakistani population. Cureus. 2019;11:0.
Kumar A, Husain ASr, Saleem A et al. Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review. Cureus. 2020 Nov 5;12(11):e11355. doi: 10.7759/cureus.11355.
Forsyth RL, Gunay-Aygun M. GeneReviews®. Seattle: University of Washington; 2003. Bardet-Biedl syndrome overview.
Nadjmi B, Flanagan MJ, Christian JR. Laurence-Moon-Biedl Syndrome: Associated With Multiple Genitourinary Tract Anomalies. Am J Dis Child. 1969;117(3):352–356. doi:10.1001/archpedi.1969.02100030354022.
Hurley RM, Dery P, Norady MB, Drummond KN. The renal lesion of the Laurence-Moon-Biedl syndrome. J Pediatr. 1975 Aug;87(2):206-9. doi: 10.1016/s0022-3476(75)80580-4.
Marion V, Schlicht D, Mockel A et al. Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption. Kidney Int 2011;79:1013-1025.
Regenbogen LS, Eliahou HE. Diseases Affecting the Eye and the Kidney, Karger, 1993.
Marion V, Schlicht D, Mockel A, et al. Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption. Kidney Int 2011;79:1013-1025.
Zacchia M, Di Iorio V, Trepiccione F et al. The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect. Kidney Dis (Basel). 2017 Jul;3(2):57-65. doi: 10.1159/000475500. Epub 2017 May 17.
Koulouridis E, Koulouridis I. Molecular pathophysiology of Bartter‘s and Gitelman‘s syndromes. World J Pediatr. 2015 May;11(2):113-25. doi: 10.1007/s12519-015-0016-4. Epub 2015 Mar 9.
Konrad M, Nijenhuis T, Ariceta G et al. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders. Kidney Int. 2021 Feb;99(2):324-335. doi: 10.1016/j.kint.2020.10.035.
Hené RJ, Koomans HA, Dorhout Mees EJ, et al. Correction of hypokalemia in Bartter’s syndrome by enalapril. Am J Kidney Dis. 1987 Mar;9(3):200-5. doi: 10.1016/s0272-6386(87)80055-0.
Nair N, Chakraborty R, Mahajan Z, et al. Renal Manifestations of Tuberous Sclerosis Complex. J Kidney Cancer VHL. 2020 Aug 27;7(3):5-19. doi: 10.15586/jkcvhl.2020.131. PMID: 32953421.
Rakowski SK, Winterkorn EB, Paul E, et al. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int. 2006;70(10):1777-82. doi: 10.1038/sj.ki.5001853.
Ewalt DH, Sheffield E, Sparagana SP, et al. Renal lesion growth in children with tuberous sclerosis complex. J Urol. 1998;160(1):141. doi: 10.1016/S0022-5347(01)63072-6.
Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002 Jul 11;347(2):111-21.
Servais A, Morinière V, Grünfeld JP, et al. Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. Clin J Am Soc Nephrol. 2008 Jan;3(1):27-35.
Bäumner S, Weber LT. Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. Front Pediatr. 2018 Mar 14;6:58. doi: 10.3389/fped.2018.00058.
Brodin-Sartorius A, Tête MJ, Niaudet P, et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int. 2012 Jan;81(2):179-89.
Levtchenko E, Servais A, Hulton SA, et al. Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients. Clin Kidney J. 2022 Apr 15;15(9):1675-1684. doi: 10.1093/ckj/sfac099.
Salomon R, Benmerah A, Heidet L et al. INSERM–Necker Hospital NPH collaborative group. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23.
Madjova V. Possibilities for early diagnosis of chronic kidney disease in outpatient settings, General Medicine, 2011, 13, 3-6.
Downloads
Published
Issue
Section
License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
You are free to share, copy and redistribute the material in any medium or format under these terms.
