Literature DB >> 3957555

Renal anomalies and agenesis associated with total intestinal aganglionosis.

P Sinnassamy, S Yazbeck, P Brochu, S O'Regan.   

Abstract

Four patients with total aganglionosis of the intestine had renal abnormalities. Two patients had cortical subcapsular cysts, one had unilateral renal agenesis and one other had unilateral renal dysplasia. The consistency of renal anomalies with total aganglionosis suggests the presence of a common genetic origin.

Entities:  

Mesh：

Year:  1986        PMID： 3957555

Source DB:  PubMed          Journal:  Int J Pediatr Nephrol        ISSN： 0391-6510


  5 in total

Review 1.  Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung's disease: a systematic review.

Authors:  Alejandro D Hofmann; Johannes W Duess; Prem Puri
Journal:  Pediatr Surg Int       Date:  2014-06-29       Impact factor: 1.827

2.  A common RET variant is associated with reduced newborn kidney size and function.

Authors:  Zhao Zhang; Jackie Quinlan; Wendy Hoy; Michael D Hughson; Mathieu Lemire; Thomas Hudson; Pierre-Alain Hueber; Alice Benjamin; Anne Roy; Elena Pascuet; Meigan Goodyer; Chandhana Raju; Fiona Houghton; John Bertram; Paul Goodyer
Journal:  J Am Soc Nephrol       Date:  2008-10       Impact factor: 10.121

3.  Renal aplasia in humans is associated with RET mutations.

Authors:  Michael A Skinner; Shawn D Safford; Justin G Reeves; Margaret E Jackson; Alex J Freemerman
Journal:  Am J Hum Genet       Date:  2008-01-31       Impact factor: 11.025

4.  Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease.

Authors:  Alessio Pini Prato; Rossella Arnoldi; Ilaria Falconi; Maria Pia Dusio; Isabella Ceccherini; Augusta Tentori; Enrico Felici; Paolo Nozza
Journal:  Pediatr Nephrol       Date:  2021-04-09       Impact factor: 3.714

5.  Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report.

Authors:  Keisuke Sugimoto; Tomoki Miyazawa; Hitomi Nishi; Kohei Miyazaki; Takuji Enya; Mitsuru Okada; Tsukasa Takemura
Journal:  BMC Nephrol       Date:  2016-10-07       Impact factor: 2.388
  5 in total

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