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 100 free, full-text research articles on human participants. First 3 results:

The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.
 

Author(s): Hakan Döneray, Takeshi Usui, Avni Kaya, Ayşe Sena Dönmez

Journal: J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):140-3.

 

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This ...

Last Updated: 28 Aug 2015

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Bilateral renal dysplasia, nephroblastomatosis, and bronchial stenosis. A new syndrome?
 

Author(s): Maria Matilde Rodriguez, Mayrin Correa-Medina, Elizabeth E Whittington

Journal: Fetal Pediatr Pathol. 2015 Jun;34(3):190-6.

 

Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or ...

Last Updated: 21 May 2015

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Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis.
 

Author(s): Sanjay Sarin, Ashkan Javidan, Felix Boivin, Iakovina Alexopoulou, Dusan Lukic, Bruno Svajger, Stephanie Chu, Alireza Baradaran-Heravi, Cornelius F Boerkoel, Norman D Rosenblum, Darren Bridgewater

Journal: J. Histochem. Cytochem.. 2015 Jan;63(1):32-44.

 

Schimke immuno-osseous dysplasia (SIOD) is a pleiotropic disorder caused by mutations in the SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like-1 (SMARCAL1) gene, with multiple clinical features, notably end-stage renal disease. Here we characterize ...

Last Updated: 27 Dec 2014

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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

Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction
 

Status: Available

Condition Summary: Hydronephrosis; Multicystic-Dysplastic Kidney

 

Last Updated: 1 Oct 2008

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The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients
 

Status: Recruiting

Condition Summary: Ureteropelvic Junction Obstruction

 

Last Updated: 22 Oct 2012

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Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors
 

Status: Recruiting

Condition Summary: Hematuria,; Nephrolithiasis; Cancer of Urinary Tract; Ureteropelvic Junction Obstruction

 

Last Updated: 9 Nov 2015

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