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.

 

 

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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 9 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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Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.
 

Author(s): Annie Michaud, Daniel Bur, Olivier Gribouval, Laurent Muller, Xavier Iturrioz, Maud Clemessy, Jean-Marie Gasc, Marie-Claire Gubler, Pierre Corvol

Journal: Hum. Mol. Genet.. 2011 Jan;20(2):301-11.

 

Renal tubular dysgenesis (RTD) is a recessive autosomal disease characterized by persistent fetal anuria and perinatal death. During the systematic screening of mutations of the different genes of the renin-angiotensin system associated with RTD, two missense mutations in the renin ...

Last Updated: 23 Dec 2010

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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

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The terms "Renal tubular dysgenesis" returned 2 free, full-text review articles on human participants. First 3 results:

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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Renal tubular dysgenesis-a case presentation.
 

Author(s): Begüm Atasay, Ayla Günlemez, Saadet Arsan, Sevcan Bakkaloğlu, Ozden Tulunay, Fatoş Yalçinkaya

Journal: Turk. J. Pediatr.. ;46(4):362-5.

 

Renal tubular dysgenesis (RTD) is a lethal, developmental anomaly of the fetal kidney characterized by a defect in differentiation of the proximal and distal convoluted tubules. It is usually associated with oligohydramnios in later pregnancy and Potter's syndrome. A neonate with ...

Last Updated: 11 Jan 2005

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 14 Mar 2014

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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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Abatacept Reduced Intensity for Non-Malignant Diseases
 

Status: Recruiting

Condition Summary: Hurler Syndrome; Fanconi Anemia; Glanzmann Thrombasthenia; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; Severe Congenital Neutropenia; Leukocyte Adhesion Deficiency; Shwachman Diamond Syndrome; Diamond Blackfan Anemia; Dyskeratosis Congenita; Chediak Higashi Syndrome; Severe Aplastic Anemia; Thalassemia; Hemophagocytic Lymphohistiocytosis

 

Last Updated: 13 Mar 2014

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