Cargando…

Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation

BACKGROUND: Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation m...

Descripción completa

Detalles Bibliográficos
Autores principales:	Petzold, Friederike, Bachmann, Anette, Bergmann, Carsten, Helmchen, Udo, Halbritter, Jan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721183/ https://www.ncbi.nlm.nih.gov/pubmed/31477057 http://dx.doi.org/10.1186/s12882-019-1523-7

Ejemplares similares

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
por: Schönauer, Ria, et al.
Publicado: (2020)

Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation
por: Lehmann, Claudia, et al.
Publicado: (2023)

Efficacy of Dapagliflozin in Adult Autosomal Recessive Alport Syndrome
por: Song, Zhuo-ran, et al.
Publicado: (2022)

Alport Syndrome With Kidney Cysts Is Still Alport Syndrome
por: Savige, Judy, et al.
Publicado: (2021)

Genotype and Outcome After Kidney Transplantation in Alport Syndrome
por: Gillion, Valentine, et al.
Publicado: (2018)

Features of Autosomal Recessive Alport Syndrome: A Systematic Review
por: Lee, Jiwon M., et al.
Publicado: (2019)

Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation
por: Kashtan, Clifford E
Publicado: (2018)

COL4A6 is dispensable for autosomal recessive Alport syndrome
por: Murata, Tomohiro, et al.
Publicado: (2016)

Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies
por: Münch, Johannes, et al.
Publicado: (2017)

Mother–Son Kidney Transplantation in Patients With X-Linked Alport Syndrome
por: Katayama, Kan, et al.
Publicado: (2021)

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy
por: Fu, Xue J, et al.
Publicado: (2014)

Alport Syndrome: Clinical Spectrum and Therapeutic Advances
por: Gregorio, Vanessa De, et al.
Publicado: (2023)

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses
por: Bergmann, Carsten
Publicado: (2018)

Post-transplant outcomes in recipients of living donor kidneys and intended recipients of living donor kidneys
por: Dharia, Atit A., et al.
Publicado: (2022)

Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease
por: Kelly, Yvelynne P., et al.
Publicado: (2016)

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome
por: Akihisa, Taro, et al.
Publicado: (2019)

Adult Living-Donor Kidney Transplantation, Donor Age, and Donor–Recipient Age
por: Hiramitsu, Takahisa, et al.
Publicado: (2021)

Donor‐transmitted extramedullary acute myeloid leukaemia after living donor kidney transplantation
por: Ghandili, Susanne, et al.
Publicado: (2022)

Impact of ABO incompatible kidney transplantation on living donor transplantation
por: Yu, Ji Hyun, et al.
Publicado: (2017)

Increasing the Supply of Kidneys for Transplantation by Making Living Donors the Preferred Source of Donor Kidneys
por: Testa, Giuliano, et al.
Publicado: (2014)

Twenty-Year Survival of Kidney Transplant From a Deceased Donor With Autosomal Dominant Polycystic Kidney Disease
por: Issa, Naim, et al.
Publicado: (2021)

The wind of change in the management of autosomal dominant polycystic kidney disease in childhood
por: Gimpel, Charlotte, et al.
Publicado: (2021)

Genotype–phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome
por: Zhang, Yanqin, et al.
Publicado: (2021)

Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome
por: Wang, Dahai, et al.
Publicado: (2021)

Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome
por: Levy, Michal, et al.
Publicado: (2023)

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia
por: Petzold, Friederike, et al.
Publicado: (2022)

Comparing Emotional Adjustment of Living-donor and Deceased-donor Kidney Transplant Patients
por: Lai, Yousheng Lester, et al.
Publicado: (2020)

Motivators and Barriers to Living Donor Kidney Transplant as Perceived by Past and Potential Donors
por: Zazoulina, Julia, et al.
Publicado: (2022)

Socioeconomic deprivation and barriers to live-donor kidney transplantation: a qualitative study of deceased-donor kidney transplant recipients
por: Bailey, Phillippa K, et al.
Publicado: (2016)

Is Bigger Better? Living Donor Kidney Volume as Measured by the Donor CT Angiogram in Predicting Donor and Recipient eGFR after Living Donor Kidney Transplantation
por: Ebad, Chaudhry Adeel, et al.
Publicado: (2021)

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
por: Savige, Judith, et al.
Publicado: (2016)

Does size matter? Kidney transplant donor size determines kidney function among living donors
por: Narasimhamurthy, Meenakshi, et al.
Publicado: (2017)

Optimal Sequencing of Deceased Donor and Live Donor Kidney Transplant Among Pediatric Patients With Kidney Failure
por: Kiberd, Bryce A., et al.
Publicado: (2022)

Molecular testing for adult type Alport syndrome
por: Pont-Kingdon, Genevieve, et al.
Publicado: (2009)

Considering ABO Incompatible Living Donor Kidney Transplantation Before Deceased Donor Kidney Transplantation in Children: A Letter to the Editor
por: Paessler, Alicia, et al.
Publicado: (2023)

Living Donor Kidney Transplantation Improves Graft and Recipient Survival in Patients with Multiple Kidney Transplants
por: Bellini, Maria Irene, et al.
Publicado: (2020)

ABO-incompatible living-donor pediatric kidney transplantation in Japan
por: Aikawa, Atsushi, et al.
Publicado: (2014)

Transplantation of Horseshoe Kidney from Living, Genetically Unrelated Donor
por: Kikkawa, Kazuro, et al.
Publicado: (2015)

Successful Live Kidney Transplantation After Chikungunya Disease in the Donor
por: Moura-Neto, José Andrade, et al.
Publicado: (2017)

Identifying Barriers to Preemptive Kidney Transplantation in a Living Donor Transplant Cohort
por: Helmick, Ryan A., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_b2dime35ufntfqjsmd5p4aevff