Renal tubular dysgenesis

Common Name(s)

Renal tubular dysgenesis

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Renal tubular dysgenesis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Renal tubular dysgenesis" returned 8 free, full-text research articles on human participants. First 3 results:

Impaired proteostasis contributes to renal tubular dysgenesis.
 

Author(s): Rita Machado de Oliveira, Zrinka Marijanovic, Filipe Carvalho, Gabriel Miltenberger Miltényi, Joana Estevão Matos, Sandra Tenreiro, Sónia Oliveira, Francisco Javier Enguita, Rosário Stone, Tiago Fleming Outeiro

Journal: PLoS ONE. 2011 ;6(6):e20854.

 

Protein conformational disorders are associated with the appearance, persistence, accumulation, and misprocessing of aberrant proteins in the cell. The etiology of renal tubular dysgenesis (RTD) is linked to mutations in the angiotensin-converting enzyme (ACE). Here, we report the ...

Last Updated: 22 Jun 2011

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Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.
 

Author(s): Andrea Zingg-Schenk, Justine Bacchetta, Pierre Corvol, Annie Michaud, Thomas Stallmach, Pierre Cochat, Olivier Gribouval, Marie-Claire Gubler, Thomas J Neuhaus

Journal: Eur. J. Pediatr.. 2008 Mar;167(3):311-6.

 

Renal tubular dysgenesis (RTD) is a clinical disorder either acquired during fetal development or inherited as an autosomal recessive condition. Inherited RTD is caused by mutations in the genes encoding the components of the renin-angiotensin system angiotensinogen, renin, angiotensin-converting ...

Last Updated: 8 Feb 2008

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Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.
 

Author(s): Mireille Lacoste, Yi Cai, Liliane Guicharnaud, Françoise Mounier, Yves Dumez, Raymonde Bouvier, Frédérique Dijoud, Marie Gonzales, Jane Chatten, Anne-Lise Delezoide, Laurent Daniel, Madeleine Joubert, Nicole Laurent, Jacqueline Aziza, Tahya Sellami, Hatem Ben Amar, Catherine Jarnet, Anne Marie Frances, Farida Daïkha-Dahmane, Aurore Coulomb, Thomas J Neuhaus, Bernard Foliguet, Pierre Chenal, Pascale Marcorelles, Jean Marie Gasc, Pierre Corvol, Marie Claire Gubler

Journal: J. Am. Soc. Nephrol.. 2006 Aug;17(8):2253-63.

 

Renal tubular dysgenesis is a clinical disorder that is observed in fetuses and characterized by the absence or poor development of proximal tubules, early onset and persistent oligohydramnios that leads to the Potter sequence, and skull ossification defects. It may be acquired during ...

Last Updated: 27 Jul 2006

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Renal tubular dysgenesis" returned 2 free, full-text review articles on human participants. First 3 results:

Renin-angiotensin system in kidney development: renal tubular dysgenesis.
 

Author(s): Marie Claire Gubler, Corinne Antignac

Journal: Kidney Int.. 2010 Mar;77(5):400-6.

 

Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence. At birth, blood pressure is dramatically low and perinatal death occurs ...

Last Updated: 12 Feb 2010

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Renal tubular dysgenesis in Israel: pathologist's experience and literature review.
 

Author(s): Moisey Moldavsky

Journal: Isr. Med. Assoc. J.. 2009 Jan;11(1):6-10.

 

Renal tubular dysgenesis is a rare lethal kidney abnormality clinically manifested by olighydramnios, anuria and respiratory distress. Most of the information on this entity is provided by case reports and short series.

Last Updated: 6 Apr 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
 

Status: Available

Condition Summary: Fanconi Anemia; Autosomal or Sex Linked Recessive Genetic Disease; Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.; Hematopoiesis Maintainance.

 

Last Updated: 21 Nov 2013

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Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 18 Oct 2017

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Familial Investigations of Childhood Cancer Predisposition
 

Status: Recruiting

Condition Summary: Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukaemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

 

Last Updated: 11 Oct 2017

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