Renal dysplasia

Common Name(s)

Renal dysplasia

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) ({5:Gribouval et al., 2005}). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
 

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Condition Specific Organizations

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

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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 dysplasia" returned 104 free, full-text research articles on human participants. First 3 results:

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
 

Author(s): Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier

Journal:

 

Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to identify novel genes whose mutations ...

Last Updated: 12 Mar 2016

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Unilateral congenital giant megaureter with renal dysplasia compressing contralateral ureter and causing bilateral hydronephrosis: a case report and literature review.
 

Author(s): Mingming Yu, Geng Ma, Zheng Ge, Rugang Lu, Yongji Deng, Yunfei Guo

Journal:

 

Congenital giant megaureter (CGM) is uncommon in the pediatric population. The major clinical presentations are marked protruberances and abdominal cysts.

Last Updated: 10 Feb 2016

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A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.
 

Author(s): Gül Yeşiltepe Mutlu, Heves Kırmızıbekmez, Akie Nakamura, Maki Fukami, Şükrü Hatun

Journal: J Clin Res Pediatr Endocrinol. 2015 Dec;7(4):344-8.

 

Hypoparathyroidism, deafness, and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease, inherited dominantly and found to be related with GATA3 (GATA binding protein 3) gene mutations. A 13-year and 8-month-old boy who presented with hypocalcemia was diagnosed with hypoparathyroidism. ...

Last Updated: 18 Jan 2016

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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 dysplasia" returned 8 free, full-text review articles on human participants. First 3 results:

Fibromuscular dysplasia affecting a two-branched renal artery in a patient with a solitary kidney: case presentation.
 

Author(s): Xuanqi An, Xiongjing Jiang, Hui Dong, Meng Peng, Yubao Zou, Lei Song, Ting Guan, Xianliang Zhou, Yuejin Yang

Journal: Clin Cardiol. 2013 Aug;36(8):E7-10.

 

Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory arterial disease, commonly involving the renal arteries. Here we report a case of a 16-year-old Chinese male who was found to have severe hypertension with proteinuria for 2 years. Computed tomography showed absence ...

Last Updated: 16 Sep 2013

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Efficacy of revascularization for renal artery stenosis caused by fibromuscular dysplasia: a systematic review and meta-analysis.
 

Author(s): Ludovic Trinquart, Claire Mounier-Vehier, Marc Sapoval, Nathalie Gagnon, Pierre-François Plouin

Journal: Hypertension. 2010 Sep;56(3):525-32.

 

In patients with fibromuscular dysplasia and renal artery stenosis, renal artery revascularization has been used to cure hypertension or to improve blood pressure control. To provide an up-to-date assessment of the benefits and risks associated with revascularization in this condition, ...

Last Updated: 19 Aug 2010

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Genetic approaches to human renal agenesis/hypoplasia and dysplasia.
 

Author(s): Simone Sanna-Cherchi, Gianluca Caridi, Patricia L Weng, Francesco Scolari, Francesco Perfumo, Ali G Gharavi, Gian Marco Ghiggeri

Journal: Pediatr. Nephrol.. 2007 Oct;22(10):1675-84.

 

Congenital abnormalities of the kidney and urinary tract are frequently observed in children and represent a significant cause of morbidity and mortality. These conditions are phenotypically variable, often affecting several segments of the urinary tract simultaneously, making clinical ...

Last Updated: 27 Aug 2007

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome
 

Status: Not yet recruiting

Condition Summary: Ureteropelvic Junction Obstruction

 

Last Updated: 21 Jun 2016

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Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty
 

Status: Recruiting

Condition Summary: Ureteropelvic Junction Obstruction

 

Last Updated: 13 Sep 2016

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Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal
 

Status: Recruiting

Condition Summary: Disorder of Urinary Stent; Ureteral Spasm; Ureteropelvic Junction Obstruction; Urolithiasis

 

Last Updated: 22 Nov 2016

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