Cargando…

Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss

We report for the first time a family with type 1 ADPKD in which the marriage between affected non-consanguinous individuals resulted in two live-born heterozygous offspring and two fetuses lost in mid-pregnancy. Given a 25% chance for mutant compound heterozygosity in the offspring of this family,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Peces, Ramón, Peces, Carlos, Coto, Eliecer, Selgas, Rafael
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2008
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421290/ https://www.ncbi.nlm.nih.gov/pubmed/25983914 http://dx.doi.org/10.1093/ndtplus/sfn103

Ejemplares similares

Rapamycin reduces kidney volume and delays the loss of renal function in a patient with autosomal-dominant polycystic kidney disease
por: Peces, Ramón, et al.
Publicado: (2009)

Nephrotic Syndrome and Idiopathic Membranous Nephropathy Associated with Autosomal-Dominant Polycystic Kidney Disease
por: Peces, Ramón, et al.
Publicado: (2011)

Sacral radicular cysts in autosomal dominant polycystic kidney disease
por: Peces, Ramón, et al.
Publicado: (2009)

Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan
por: Peces, Ramón, et al.
Publicado: (2021)

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2
por: Peces, Ramón, et al.
Publicado: (2020)

Hypertension in autosomal-dominant polycystic kidney disease (ADPKD)
por: Sans-Atxer, Laia, et al.
Publicado: (2013)

Cellular abnormalities in Autosomal Dominant Polycystic Kidney Disease (ADPKD) fibroblasts
por: Moyes, S, et al.
Publicado: (2012)

Echocardiographic Abnormalities in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Patients
por: Pfeferman, Mariana Becker, et al.
Publicado: (2022)

Recurrent Cholangitis in a Patient with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Caroli's Disease
por: Hasegawa, Eiko, et al.
Publicado: (2016)

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report
por: Elisakova, Veronika, et al.
Publicado: (2018)

Informatics-guided drug repurposing for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
por: Kiseleva, Anna A., et al.
Publicado: (2020)

Systems biology approaches toward autosomal dominant polycystic kidney disease (ADPKD)
por: Rahimmanesh, Ilnaz, et al.
Publicado: (2020)

A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model
por: McEwan, Phil, et al.
Publicado: (2018)

Management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) During Pregnancy: Risks and Challenges
por: McBride, Lucy, et al.
Publicado: (2020)

Clinical Utility and Tolerability of Tolvaptan in the Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD)
por: Raina, Rupesh, et al.
Publicado: (2022)

Association of Vitamin D Levels With Kidney Volume in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
por: Vendramini, Larissa Collis, et al.
Publicado: (2019)

Bone health in autosomal dominant polycystic kidney disease (ADPKD) patients after kidney transplantation
por: Zubidat, Dalia, et al.
Publicado: (2023)

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report
por: Peces, Ramón, et al.
Publicado: (2017)

Giant Bilateral Renal Angiomyolipomas and Lymphangioleiomyomatosis Presenting after Two Successive Pregnancies Successfully Treated with Surgery and Rapamycin
por: Peces, Ramón, et al.
Publicado: (2011)

European ADPKD Forum multidisciplinary position statement on autosomal dominant polycystic kidney disease care: European ADPKD Forum and Multispecialist Roundtable participants
por: Harris, Tess, et al.
Publicado: (2018)

Native Nephrectomy before and after Renal Transplantation in Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
por: Maxeiner, Andreas, et al.
Publicado: (2019)

The Effect of Dietary Intervention on Autosomal-Dominant Polycystic Kidney Disease (ADPKD) Patients on Tolvaptan and Their Quality of Life
por: Tarabzuni, Ola
Publicado: (2022)

Outcomes from the Northeast England cohort of autosomal dominant polycystic kidney disease (ADPKD) patients on tolvaptan
por: Gkekas, Eleftherios, et al.
Publicado: (2022)

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)
por: Sekine, Akinari, et al.
Publicado: (2022)

Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes
por: Peces, Ramón, et al.
Publicado: (2022)

Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations
por: Losekoot, Monique, et al.
Publicado: (2020)

Pretransplant Nephrectomy for Large Polycystic Kidneys in ADPKD (Autosomal Dominant Polycystic Kidney Disease) Patients: Is Peritoneal Dialysis Recovery Possible after Surgery?
por: Ietto, Giuseppe, et al.
Publicado: (2019)

Autosomal dominant polycystic kidney disease (ADPKD) is associated with coronary arterial dilatation in end-stage renal failure patients
por: Chiha, Joseph, et al.
Publicado: (2012)

Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD)
por: Dudley, Jan, et al.
Publicado: (2019)

Case report: tolvaptan-associated creatine kinase elevation in two patients with autosomal dominant polycystic kidney disease (ADPKD)
por: Agraz-Pamplona, I., et al.
Publicado: (2020)

Total and Extracellular Vesicle cAMP Contents in Urine Are Associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD) Progression
por: Rosenberg, María Lucía, et al.
Publicado: (2023)

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
por: Carrera, Paola, et al.
Publicado: (2016)

Isolated Persistent Left Superior Vena Cava Associated With Autosomal Dominant Polycystic Kidney Disease (ADPKD): Challenges and Clinical Significance
por: Samara, Osama A, et al.
Publicado: (2022)

Life-Threatening Retroperitoneal Hemorrhage Following Cyst Rupture in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case Report
por: Duriseti, Parikshit, et al.
Publicado: (2023)

Polycystin-1 Expression in Fetal, Adult and Autosomal Dominant Polycystic Kidney
por: Chae, Seoung Wan, et al.
Publicado: (2006)

Autosomal dominant polycystic kidney
por: Gudadhe, Rugaved Raghavendra, et al.
Publicado: (2022)

A Rare Case of Pelvic Organ Prolapse in a Nulliparous Female With Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Polycystic Liver Disease (PLD)
por: Hechter, Sharon, et al.
Publicado: (2021)

The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition
por: Solazzo, Andrea, et al.
Publicado: (2018)

Clinical proof-of-concept trial to assess the therapeutic effect of sirolimus in patients with autosomal dominant polycystic kidney disease: SUISSE ADPKD study
por: Serra, Andreas L, et al.
Publicado: (2007)

Kidney transplantation with concomitant simple nephrectomy by thoracoabdominal approach for patients with huge autosomal dominant polycystic kidney disease (ADPKD): A case report
por: Yamada, Yasutoshi, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_cfg65khd5862brvdiaahdbt7ss