Agresott MEC, Cetina BED, Amador CAC, Vargas RLJ, Solano JIK, Fuentes RN

Language: Spanish
References: 16
Page: 78-82
PDF size: 184.46 Kb.

ABSTRACT

Background: Alport syndrome was first described by Cecil Alport in 1927 as a congenital familial hereditary hemorrhagic nephritis. This is an inherited renal disorder resulting from lesions of the basement membranes secondary to a defect in type IV collagen that usually leads to compromise of the glomerular basement membrane.
Clinical case: A 47-year-old male patient, on dialysis therapy for advanced chronic renal failure, who had Alport syndrome for 12 years; initially presented anemia that persisted despite treatment with erythropoietin and intravenous iron, in addition to thrombocytopenia that was managed by the hematology service; 20 days later he presented with melenic stools of a week evolution associated with abdominal pain with a recent upper digestive tract endoscopy report that described diffuse chronic gastritis without evidence of upper digestive bleeding. Three years later he continued with thrombocytopenia, one year later he presented ankle hemarthrosis. Finally, the patient presented symptoms of sudden onset dyspnea associated with rapid respiratory deterioration with subsequent sudden death despite advanced resuscitation maneuvers.
Conclusions: The thrombocytopenic variant of Alport syndrome is usually associated with hemorrhagic complications that make surgical intervention difficult. Interdisciplinary medical care facilitates better treatment and, above all, limits complications.

REFERENCES

1. Urrego Díaz JA, Landinez Millán G, Lozano Triana CJ.Síndrome de Alport: reporte de caso y revisión. Rev FacMed 2015; 63 (1). https://doi.org/10.15446/revfacmed.v63n1.45007.

2. Cervera-Acedo C, Coloma A, Huarte-Loza E, Sierra-CarpioM, Domínguez-Garrido E. Phenotype variability in a largeSpanish family with Alport syndrome associated with novelmutations in COL4A3 gene. BMC Nephrology 2017;18 (1):325. doi: 10.1186/s12882-017-0735-y.

3. Furlano M, Pybus M, Ars Criach E, Torra Balcells MR. Síndromede Alport: respuestas clave para la práctica clínicaen nefrología. Nefroplus 2021; 13 (01): 1-9.

4. Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, OkamotoT, et al. A review of clinical characteristics and genetic backgroundsin Alport syndrome. Clin Exper Nephrol 2018;23(2): 158-68. doi: 10.1007/s10157-018-1629-4.

5. Gale Díaz SC, Galeas R, Navarrete E. Síndrome de Alport: Reportede un caso. Acta Pediátrica Hondureña 2018; 9: 938-942.

6. Hudson BG. The molecular basis of Goodpasture and Alportsyndromes: beacons for the discovery of the collagenIV family. J Am Soc Nephrol 2004; 15 (10): 2514-27. doi:10.1097/01.ASN.0000141462.00630.76.

7. Tapia-Cerpa CE, Miyahira-Arakaki J. Síndrome de Alportautosómico recesivo. A propósito de un caso. Rev MedHered 2008; 19 (1): 25-8.

8. Plevová P, Gut J, Janda J. Familial hematuria: a review.Medicina (Kaunas) 2017; 53 (1): 1-10. doi: 10.1016/j.medici.2017.01.002.

9. Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, etal. Expert consensus guidelines for the genetic diagnosis ofAlport syndrome. Pediatr Nephrol 2019; 34 (7): 1175-89.doi: 10.1007/s00467-018-3985-4.

10. Kashtan CE. Alport syndrome. En: Adam MP, ArdingerHH, Pagon RA, et al. GeneReviews®. Seattle: University ofWashington, 1993-2020.

11. Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expertguidelines or the management of Alport syndrome andthin basement membrane nephropathy. J Am Soc Nephrol2013; 24 (3): 364-75. doi: 10.1681/ASN.2012020148.

12. Fogo AB, Lusco MA, Najafian B, Alpers CE. AJKD Atlas ofRenal Pathology: Alport syndrome. Am J Kidney Dis 2016;68 (4): e15-e16. doi: 10.1053/j.ajkd.2016.08.002.

13. Courville K, Núñez V, Landires I. Síndrome de Alport: unaactualización en fisiopatología, genética, diagnóstico ytratamiento. Rev Nefrol Dial Traspl 2021; 41 (1): 62-71.

14. Zhang Z, Li Z, Cao K, Fang D, Wang F, Bi G, et al. Adjunctivetherapy with statins reduces residual albuminuria/proteinuria and provides further renoprotection by downregulatingthe angiotensin II-AT1 pathway in hypertensivenephropathy. J Hypertens 2017; 35 (7): 1442-56. doi:10.1097/HJH.0000000000001325.

15. Massella L, Muda AO, Legato A, Di Zazzo G, Giannakakis K,Emma F. Cyclosporine a treatment in patients with Alportsyndrome: a single-center experience. Pediatr Nephrol2010; 25 (7): 1269-75. doi: 10.1007/s00467-010-1484-3.

16. Gross O, Perin L, Deltas C. Alport syndrome from bench tobedside: the potential of current treatment beyond RAASblockade and the horizon of future therapies. Nephrol DialTransplant 2014; 29 (Suppl. 4): iv124-30. doi: 10.1093/ndt/gfu028.