Anomalías congénitas del riñón y del tracto urinario en niños con síndrome de Down

Víctor Manuel Mora-Bautista

Resumen


Las anomalías del riñón y el tracto urinario hacen parte de las anomalías congénitas relacionadas con el síndrome de Down. No existen recomendaciones específicas. Para el presente estudio, se hizo una revisión por palabras clave en bases de datos (Pubmed, Science Direct, Ovid, Google académico, UpToDate). Se encontró que, en niños con síndrome de Down, las enfermedades congénitas del riñón y el tracto urinario abarcan glomerulonefritis, agenesia renal, microquistes, riñones ectópicos, hidronefrosis, hidrouréter, valvas uretrales posteriores, obstrucción de la uretra anterior e hipospadias. Con respecto a los procesos diagnósticos, sería razonable realizar una ecografía renal durante la primera semana de vida. Adicionalmente, la uretrocistografía sería útil solo en casos seleccionados. Si hay un historial de incontinencia urinaria o de infecciones urinarias de repetición; o se detecta un reflujo vesicoureteral, o caída de la tasa de filtración glomerular estimada, debería considerarse la existencia de una disfunción vesical asociada y podría ser pertinente una evaluación urológica (uroflujometría o urodinamia). Sería recomendable hacer un seguimiento clínico anual de la función renal.


Palabras clave


síndrome de Down, enfermedades congénitas, enfermedades renales, enfermedades urológicas, diagnóstico por imagen.

Referencias


World Health Organization. Genes and Human Disease. [Internet] 2013. Disponible en: http://www.who.int/genomics/public/

geneticdiseases/en/index1.html

Nazer H J, Cifuentes O L. Estudio epidemiológico global del síndrome de Down. Rev Chil Pediatr. 2011;82(2):105-112.

https://doi.org/10.4067/S0370-41062011000200004

Hernández Ramírez I, Manrique Hernández RD. Prevalencia de síndrome de Down en CEHANI-ESE, San Juan de Pasto Colombia. 1998-2003. NOVA. 2006;4(5):50-56. https://doi.org/10.22490/24629448.347

Ramírez M RE, Isaza C, Gutiérrez MI. La incidencia del síndrome de Down en Cali. Colombia Médica. 1996;27(3-4):138-142.

Madariaga Domínguez L. Anomalías congénitas del riñón y la vía urinaria (CAKUT). [Internet] 2015. Disponible en: https://continuum.aeped.es/files/guias/Material_descarga_unidad_1_nefrologia.pdf

Zarante I, Zarante AM, Fernández N. Frecuencia de malformaciones congénitas genitales y urológicas en Colombia. Rev Arg de Urol. 2009;74(2):85-90.

Kupferman J, Druschel C, Kupchik G. Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Down Syndrome. Pediatrics. 2009;124(4):615-621. https://doi.org/10.22490/24629448.34710.1542/peds.2009-0181

Morris JK, Garne E, Wellesley D, Addor MC, Arriola L, Barisic I, et al. Major Congenital Anomalies in Babies Born with Down Syndrome: A EUROCAT Population-Based Registry Study. Am J Med Genet A. 2014;164(12):2979-2986. https://doi.org/10.22490/24629448.34710.1542/peds.2009-018110.1002/ajmg.a.36780

Qureshi F, Jacques SM, Feldman B, Doss BJ, Johnson A, Evans MI, Johnson MP. Fetal Obstructive Uropathy in Trisomy Syndromes. Fetal Diagn Ther. 2000;15(6):342-347. https://doi.org/10.1159/000021034

de Carvalho Mrad FC, de Bessa J Jr, de Rezende Duarte AM, Vieira AA, Araujo FC, de Sá Camargo ML, et al. Prevalence of Lower Urinary Tract Symptoms in Individuals with Down Syndrome. J Pediatr Urol. 2014;10(5):844-849. https://doi.org/10.1016/j.jpurol.2014.02.011

Kapoor S, Bhayana S, Singh A, Kishore J. Co-morbidities Leading to Mortality or Hospitalization in Children with Down Syndrome and its Effect on the Quality of Life of their Parents. Indian J Pediatr. 2014;81(12):1302-1306. https://doi.org/10.1007/s12098-014-1389-4

Bull MJ, The Committee on Genetics. Health Supervision for Children with Down Syndrome. Pediatrics. 2011;128(2):393-406.

https://doi.org/10.1542/peds.2011-1605

Urbano R. Health Issues Among Persons with Down Syndrome. San Diego: Elsevier; 2010.

Ebert AK, Brookman-Amissah S, Rösch WH. Urologische Manifestationen des Down-syndroms: Bedeutung und Langzeitkomplikationen - Eigenes patientengut mit Übersicht. Urologe. 2008;47(3):337-341. https://doi.org/10.1007/s00120-007-1614-0

Málaga S, Pardo R, Málaga I, Orejas G, Fernández-Toral J. Renal Involvement in Down Syndrome. Pediatr Nephrol. 2005;20(5):614- 617. https://doi.org/10.1007/s00467-005-1825-9

Said SM, Cornell LD, Sethi S, Fidler ME, Al Masri O, Marple J, Nasr SH. Acquired Glomerular Lesions in Patients with Down Syndrome. Hum Pathol. 2012;43(1):81-88.

https://doi.org/10.1016/j.humpath.2011.04.009

Lo A, Brown HG, Fivush BA, Neu AM, Racusen LC. Renal Disease in Down Syndrome: Autopsy Study with Emphasis on Glomerular Lesions. Am J Kidney Dis. 1998;31(2):329-335.

Assadi FK. IgG-associated mesangial glomerulonephritis in a patient with Down syndrome. Med Sci Monit. 2004;10(9):54-57.

Cherif M, Hedri H, Ounissi M, Gergah T, Goucha R, Barbouch S. Pauci- immune Crescentic Glomerulonephritis in the Down’s Syndrome. Saudi J Kidney Dis Transpl. 2013;24(6):1223-1227.

https://doi.org/10.4103/1319-2442.121311.

Kute VB, Vanikar AV, Shah PR, Gumber MR, Patel HV, Engineer DP, et al. Down Syndrome with End-Stage Renal Disease. Indian J Clin Biochem. 2013;28(4):429-432. https://doi.org/10.1007/s12291-013-0308-1

Kusters MA, Verstegen RH, Gemen EF, de Vries E. Intrinsic Defect of the Immune System in Children with Down Syndrome: A Review. Clin Exp Immunol. 2009;156(2):189-193.

https://doi.org/10.1111/j.1365-2249.2009.03890.x

Haseyama T, Imai H, Komatsuda A, Hamai K, Ohtani H, Kibira S, Miura AB. Proteinase-3-antineutrophil cytoplasmic antibody (PR3-ANCA) positive crescentic glomerulonephritis in a patient with Down’s syndrome and infectious endocarditis. Nephrol Dial Transplant. 1998;13(8):2142-2146.

Nickavar A. Polycystic kidney and Down Syndrome. JRMS. 2006;11(4):278-280.

Lazarus J, Theron A, Smit S. Posterior urethral valves and Downsyndrome. African J Urol. 2015;21(1):4-5.

Narasimhan K, Gupta A. Posterior Urethral Valves with Down ’ s Syndrome Presenting as Scrotal Urinary Sinuses. Indian Pediatr. 1993;41(10):1068-1069.

Mondal K, Maheshwari A, Aneja S, Seth A. A Case of Down Syndrome with a Posterior Urethral Valve. Indian J Nephrol. 2012;22(5):403-405. https://doi.org/10.4103/0971-4065.103922

Narasimhan KL, Kaur B, Marwaha RK. Posterior Urethral Valves in Patients with Down Syndrome. Indian J Pediatr. 2005;72(9):802.

Al Harbi NN. Prune-Belly Anomalies in a Girl with Down Syndrome. Pediatr Nephrol. 2003;18(11):1191-1192.

Bittles AH, Bower C, Hussain R, Glasson EJ. The Four Ages of Down Syndrome. Eur J Public Health. 2007;17(2):221-225.

https://doi.org/10.1093/eurpub/ckl103

Hicks JA, Carson C, Malone PS. Is there an Association between Functional Bladder Outlet Obstruction and Down’s Syndrome? J Pediatr Urol. 2007;3(5):369-374. https://doi.org/10.1016/j.jpurol.2007.02.003

Chicoine B, Sulo S. Rate of Urinary Retention in Adults with Down Syndrome: A Prospective Study. J Am Board Fam Med. 2015;28(1):115-117. https://doi.org/10.3122/jabfm.2015.01.140065.

Powers MK, Brown ET, Hogan RM, Martin AD, Ortenberg J, Roth CC. Trends in Toilet Training and Voiding Habits among Children with Down Syndrome. J Urol. 2015;194(3):783-787.

https://doi.org/10.1016/j.juro.2015.03.114

Seki N, Shahab N. Dysfunctional Voiding of Non-Neurogenic Neurogenic Bladder : A Urological Disorder Associated with Down Syndrome. En Dey S. Genetics and Etiology of Down Syndrome. [Internet] 2011. Disponible en: http://cdn.intechopen.com/pdfs-wm/18447.pdf

Handel L, Barqawi A, Checa G, Furness P, Koyle MA. Males with Down’s Syndrome and Nonneurogenic Neurogenic Bladder. J Urol. 2003;169(2):646-649.

https://doi.org/10.1097/01.ju.0000047125.89679.28.

Fujisawa Y, Miyamoto T, Furuhashi K, Sano S, Nakagawa Y, Ohzeki T. A Novel Mutation in the Renal V2 Receptor Gene in a Boy with Trisomy 21. Pediatr Nephrol. 2004;19(6):609-611.

https://doi.org/10.1007/s00467-004-1446-8

Satgé D, Sasco AJ, Day S, Culine S. A Lower Risk of Dying from Urological Cancer in Down Syndrome: Clue for Cancer Protecting Genes on Chromosome 21. Urol Int. 2009;82(3):296-300.

https://doi.org/10.1159/000209361

Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second-Trimester Ultrasound to Detect Fetuses with Down Syndrome: A Meta-Analysis. JAMA. 2001;285(8):1044-1055.

Madariaga Domínguez L, Ordóñez Álvarez FÁ. Manejo de las anomalías renales y del tracto urinario detectadas por ecografía prenatal. Uropatías obstructivas. Protoc Diagn Ter Pediatr. 2014;1(1):225-239.

Jain M, Singh A, Mantan M, Kapoor S. Evaluation of Structural Anomalies of Kidney and Urinary Tract in Children with Down Syndrome. Indian J Pediatr. 2014;81(7):734-734.

https://doi.org/10.1007/s12098-013-1244-z

Kitamura A, Kondoh T, Noguchi M, Hatada T, Tohbu S, Mori K, et al. Assessment of Lower Urinary Tract Function in Children with Down Syndrome. Pediatr Int. 2014;56(6):902-908.

https://doi.org/10.1111/ped.12367

Guzmán R, Campos C, López-Fernández E, Casado A. Biomarkers of Age Effect on Renal Function in Down Syndrome. Biomarkers. 2011;16(8):679-85. https://doi.org/10.3109/1354750X.2011.626527

Campos C, Guzmán R, López-Fernández E, Casado Á. Evaluation of Urinary Biomarkers of Oxidative/Nitrosative Stress in Adolescents and Adults with Down Syndrome. Biochim Biophys Acta. 2011;1812(7):760-768. https://doi.org/10.1016/j.bbadis.2011.03.013

Campos C, Guzmán R, López-Fernández E, Casado Á. Evaluation of Urinary Biomarkers of Oxidative/Nitrosative Stress in Children with Down Syndrome. Life Sci. 2011;89(17-18):655-661.

https://doi.org/10.1016/j.lfs.2011.08.006

Jovanovic SV, Clements D, MacLeod K. Biomarkers of Oxidative Stress Are Significantly Elevated in Down Syndrome. Free Radic Biol Med. 1998;25(9):1044-1048.

National Down Syndrome Society. Toilet Training Children with Down Syndrome. [Internet] 2014 [accedido 18 Ene 2018]. Disponible en: http://www.ndss.org/Resources/Therapies-Development/Toilet-Training-Children-with-Down-Syndrome/

Kosmadakis G, Smirloglou D, Gobou A, Draganis T, Michail S. Hemodialysis Treatment on an Adult Patient with Down Syndrome Associated with Ectopic Right Kidney Chronic Obstructive Nephropathy and Secondary Amyloidosis. Saudi J Kidney Dis Transpl. 2013;24(2):322-325.

Yavascan O, Kara OD, Anil M, Bal A, Pehlivan O, Aksu N. Chronic peritoneal dialysis treatment in a pediatric patient with Down syndrome. Perit Dial Int. 2008;28(5):558-559.

Aksu N, Yavascan O, Anil M, Kara OD, Bal A, Anil AB. Chronic Peritoneal Dialysis in Children with Special Needs or Social Disadvantage or Both: Contraindications Are Not Always Contraindications. Perit Dial Int. 2012;32(4):424-430. https://doi.org/10.3747/pdi.2009.00202

Horcicka V, Zadrazil J, Zahálková J, Krejcí K, Strebl P, Al Jabry S. A Down syndrome patient treated with peritoneal dialysis. Dial Transplant [Internet]. 2006;35(3):167-75. Available from: http://doi.wiley.com 10.1002/dat.20000

Hausmann MJ, Landau D. A Down Syndrome Patient Treated by Peritoneal Dialysis. Nephron. 2002;92(2):484-486.

https://doi.org/10.1159/000063317

Bagi N, Tejani A, Sullivan E. Renal transplantation in Down syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Transpl. 1998;2(3):211-215.

Knoll G, Cockfield S, Blydt-Hansen T, Baran D, Kiberd B, Landsberg D, Cole E. Canadian Society of Transplantation Consensus Guidelines on Eligibility for Kidney Transplantation. CMAJ. 2005;173(10):S1-25. https://doi.org/10.1503/cmaj.051291

Wightman A, Young B, Bradford M, Dick A, Healey P, McDonald R, Smith J. Prevalence and outcomes of renal transplantation in children with intellectual disability. Pediatr Transplant. 2014;18(7):714-719. https://doi.org/10.1111/petr.12339

Galante NZ, Dib GA, Medina-Pestana JO. Severe Intellectual Disability Does Not Preclude Renal Transplantation. Nephrol Dial Transplant. 2010;25(8):2753-2757. https://doi.org/10.1093/ndt/gfq105


Texto completo: PDF PDF (English) HTML

DOI: 10.22265/acnef.5.2.268

Métricas de artículo

Cargando métricas ...

Metrics powered by PLOS ALM

Enlaces refback

  • No hay ningún enlace refback.


Copyright (c) 2018 Revista Colombiana de Nefrología

Licencia de Creative Commons
Este obra está bajo una licencia de Creative Commons Reconocimiento-NoComercial-SinObraDerivada 4.0 Internacional.