Literature DB >> 6717505

Familial nature of congenital absence and severe dysgenesis of both kidneys.

A M Roodhooft, J C Birnholz, L B Holmes.   

Abstract

Seventy-one parents and 40 siblings of 41 index patients with bilateral renal agenesis, bilateral severe dysgenesis, or agenesis of one kidney and dysgenesis of the other were evaluated by gray-scale ultrasonography for genitourinary malformations. Nine per cent (10 of 111) had asymptomatic renal malformations, most often unilateral renal agenesis (4.5 per cent--a frequency that was significantly higher than the frequency of 0.3 per cent among 682 adults [P less than 0.004]). We recommend ultrasonographic screening for parents and siblings of infants born with agenesis or dysgenesis of both kidneys or with agenesis of one kidney and dysgenesis of the other, since renal malformations may have medical implications even for asymptomatic patients.

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Year:  1984        PMID: 6717505     DOI: 10.1056/NEJM198405243102101

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


  28 in total

1.  Is unilateral multicystic renal dysplasia sometimes heritable, and what is the risk of recurrence?

Authors:  J Bernstein
Journal:  Pediatr Nephrol       Date:  1990-11       Impact factor: 3.714

2.  Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.

Authors:  Andrew L Schwaderer; Carlton M Bates; Kirk M McHugh; Kim L McBride
Journal:  Pediatr Nephrol       Date:  2006-09-15       Impact factor: 3.714

3.  Role of fibroblast growth factor receptor 2 in kidney mesenchyme.

Authors:  David Hains; Sunder Sims-Lucas; Kayle Kish; Monalee Saha; Kirk McHugh; Carlton M Bates
Journal:  Pediatr Res       Date:  2008-12       Impact factor: 3.756

4.  Chromosome 22q11 deletion presenting as the Potter sequence.

Authors:  K Devriendt; P Moerman; D Van Schoubroeck; K Vandenberghe; J P Fryns
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

5.  A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

Authors:  Patrick D Brophy; Maria Rasmussen; Mrutyunjaya Parida; Greg Bonde; Benjamin W Darbro; Xiaojing Hong; Jason C Clarke; Kevin A Peterson; James Denegre; Michael Schneider; Caroline R Sussman; Lone Sunde; Dorte L Lildballe; Jens Michael Hertz; Robert A Cornell; Stephen A Murray; J Robert Manak
Journal:  Genetics       Date:  2017-07-24       Impact factor: 4.562

6.  Failure of ureteric bud invasion: a new model of renal agenesis in mice.

Authors:  T Kamba; S Higashi; T Kamoto; H Shisa; Y Yamada; O Ogawa; H Hiai
Journal:  Am J Pathol       Date:  2001-12       Impact factor: 4.307

7.  The role of a single formin isoform in the limb and renal phenotypes of limb deformity.

Authors:  A Wynshaw-Boris; G Ryan; C X Deng; D C Chan; L Jackson-Grusby; D Larson; J H Dunmore; P Leder
Journal:  Mol Med       Date:  1997-06       Impact factor: 6.354

8.  Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.

Authors:  Asaf Vivante; Michal Mark-Danieli; Miriam Davidovits; Orit Harari-Steinberg; Dorit Omer; Yehudit Gnatek; Roxana Cleper; Daniel Landau; Yael Kovalski; Irit Weissman; Israel Eisenstein; Michalle Soudack; Haike Reznik Wolf; Naomi Issler; Danny Lotan; Yair Anikster; Benjamin Dekel
Journal:  J Am Soc Nephrol       Date:  2013-03-21       Impact factor: 10.121

9.  Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.

Authors:  Louise Harewood; Monica Liu; Jean Keeling; Alan Howatson; Margo Whiteford; Peter Branney; Margaret Evans; Judy Fantes; David R Fitzpatrick
Journal:  PLoS One       Date:  2010-08-25       Impact factor: 3.240

10.  Potter sequence and consanguinity--a case report.

Authors:  B R Fischler; U B Berg
Journal:  Pediatr Nephrol       Date:  1994-02       Impact factor: 3.714

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