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Una nueva variante del gen COL4A4 (c.1856G> A). De un caso de glomeruloesclerosis focal y segmentaria a una familia con síndrome de Alport / A novel COL4A4 gene variant (c.1856G>A): from a focal segmental glomerulosclerosis case to a family with Alport syndrome
Ersan, Sibel; Kirbiyik, Ozgur; Sarikaya, Turker; Guvenc, Merve Saka; Karadeniz, Tugba.
  • Ersan, Sibel; Department of Nephrology. Izmir Tepecik Training and Research Hospital. Health Sciences University. Izmir. TC
  • Kirbiyik, Ozgur; Department of Medical Genetics. Izmir Tepecik Training and Research Hospital. Health Sciences University. Izmir. TC
  • Sarikaya, Turker; Department of Internal Medicine. Izmir Tepecik Training and Research Hospital. Health Sciences University. Izmir. TC
  • Guvenc, Merve Saka; Department of Medical Genetics, Izmir. Izmir Tepecik Training and Research Hospital. Health Sciences University. Izmir. TC
  • Karadeniz, Tugba; Department of Pathology. Izmir Tepecik Training and Research Hospital. Health Sciences University. Izmir. TC
Rev. nefrol. diál. traspl ; 39(2): 120-125, jun. 2019. ilus.; gráf.; tabl.
Artigo em Inglês | LILACS, BINACIS | ID: biblio-1352753
RESUMEN
El síndrome de Alport (SA), también conocido como nefritis hereditaria, es una forma progresiva hereditaria de enfermedad glomerular que a menudo se asocia con pérdida auditiva neurosensorial y anomalías oculares. Es causada por mutaciones en los genes que codifican varios miembros de las proteínas de colágeno del tipo IV, que se hallan en las membranas basales principalmente. Los análisis genéticos de las familias afectadas han identificado cuatro modos diferentes de transmisión en pacientes con síndrome de Alport. La forma del síndrome ligada al X surge a partir de mutaciones de COL4A5 y COL4A6 en el cromosoma X, mientras que las formas autosómicas resutan de defectos genéticos tanto en el gen COL4A3 como en el COL4A4, en el cromosoma 2q35-37. Las formas digénicas incluyen pacientes con mutaciones coexistentes en COL4A3, COL4A4 y COL4A5. El resultado clínico a largo plazo en pacientes con SA con mutaciones heterocigotas de COL4A3/A4es generalmente impredecible. La glomeruloesclerosis focal y segmentaria suele desarrollarse en el SA clásico en etapas posteriores y se presenta predominantemente con proteinuria asociada con hematuria. En el caso índice presentado en este informe, a un hombre de 26 años se le realizó una biopsia de riñón debido a una proteinuria nefrótica y una hematuria microscópica acompañada de una función renal alterada. Se le diagnosticó glomeruloesclerosis focal y segmentaria. Debido a que tenía una pérdida auditiva progresiva desde el inicio del estudio, se le realizó un estudio genético de mutaciones en los genes COL4A3 y COL4A4. Se detectó una nueva mutación en el gen COL4A4 (c.1804-7T> C).Debido a que sus padres tenían un matrimonio consanguíneo, el resto de la familia fue sometida a estudio para la misma variante. Sus padres y su hermana fueron heterocigotos y homocigota para la misma variante, respectivamente. En este estudio, se demostró la existencia de una familia con síndrome de Alport con una nueva mutación en el gen COL4A4 (c.1856G> A) que, según sabemos, es el primer caso reportado.
ABSTRACT
Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. It is caused by mutations in genes encoding several members of type IV colagen proteins primarily found in basement membranes. Genetic analyses of affected families have identified four different modes of transmission in patients with Alport syndrome. X-linked form of the syndrome arises from mutations of COL4A5 and COL4A6 on chromosome X, whereas autosomal forms result from genetic defects in either the COL4A3 or COL4A4 genes at chromosome 2q35-37. Digenic forms include patients with coexisting mutations in COL4A3, COL4A4, and COL4A5. The long-term clinical outcome in AS patients with heterozygous COL4A3/A4 mutations is generally unpredictable. Focal segmental glomerulosclerosis usually develops in classical AS at later stages and presents predominantly with proteinuria associated with hematuria. The index case presented in this report, a 26-year-old man, had kidney biopsy because of nephrotic proteinuria and microscopic hematuria accompanied by impaired renal function. He diagnosed focal segmental glomerulosclerosis. As he had progressive hearing loss since chidhood we conducted a genetic study for mutations in COL4A3 and COL4A4 genes. A novel mutation in COL4A4 gene (c.1804-7T>C) was detected. As his parents had consanguineous marriage we investigated the rest of the family for the same variant. His parents, and his sister were found to be heterozygote, and homozygote for the same variant, respectively. In this report we demonstrated an Alport syndrome family with a novel mutation in COL4A4 gene (c.1856G>A) that has been first reported to our best knowledge.
Assuntos

Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Mutação / Nefrite Hereditária Tipo de estudo: Estudo prognóstico Limite: Adulto / Humanos / Masculino Idioma: Inglês Revista: Rev. nefrol. diál. traspl Assunto da revista: Cirurgia Geral / Nefrologia Ano de publicação: 2019 Tipo de documento: Artigo País de afiliação: Turquia Instituição/País de afiliação: Department of Internal Medicine/TC / Department of Medical Genetics/TC / Department of Medical Genetics, Izmir/TC / Department of Nephrology/TC / Department of Pathology/TC

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Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Mutação / Nefrite Hereditária Tipo de estudo: Estudo prognóstico Limite: Adulto / Humanos / Masculino Idioma: Inglês Revista: Rev. nefrol. diál. traspl Assunto da revista: Cirurgia Geral / Nefrologia Ano de publicação: 2019 Tipo de documento: Artigo País de afiliação: Turquia Instituição/País de afiliação: Department of Internal Medicine/TC / Department of Medical Genetics/TC / Department of Medical Genetics, Izmir/TC / Department of Nephrology/TC / Department of Pathology/TC