Literature DB >> 6638071

Possible new autosomal recessive syndrome with unusual renal histopathological changes.

J E Allanson, J T Pantzar, P M MacLeod.   

Abstract

We report a couple with repeated pregnancy loss--two spontaneous first trimester abortions and two stillbirths with diffuse hypoplasia of the renal tubules. Both parents have been investigated to exclude occult unilateral renal agenesis. We raise the possibility that this is a new autosomal recessive condition.

Entities:  

Mesh：

Year:  1983        PMID： 6638071     DOI： 10.1002/ajmg.1320160110

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  20 in total

1.  Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors.

Authors:  D Kumar; G Moss; R Primhak; R Coombs
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Renal tubular dysgenesis with medullary ray nodules.

Authors:  Moisey Moldavsky
Journal:  Pediatr Nephrol       Date:  2003-02-12       Impact factor: 3.714

3.  Renovascular hypertension commencing during fetal life.

Authors:  Shivaram Hegde; Christopher Wright; Mohan Shenoy; Nadeem E Moghal; Malcolm G Coulthard
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2006-09-21       Impact factor: 5.747

4.  A further family with congenital renal proximal tubular dysgenesis.

Authors:  P MacMahon; R A Blackie; M J House; R A Risdon; M D Crawfurd
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

5.  Congenital unilateral renal tubular dysgenesis and severe neonatal hypertension.

Authors:  Danielle Delaney; Sean E Kennedy; Vivienne H Tobias; Robert H Farnsworth
Journal:  Pediatr Nephrol       Date:  2008-11-04       Impact factor: 3.714

6.  Renal failure in the neonate associated with in utero exposure to non-steroidal anti-inflammatory agents.

Authors:  B S Kaplan; I Restaino; D S Raval; R P Gottlieb; J Bernstein
Journal:  Pediatr Nephrol       Date:  1994-12       Impact factor: 3.714

7.  A further case of renal tubular dysgenesis surviving the neonatal period.

Authors:  Mitsugu Uematsu; Osamu Sakamoto; Toshihiro Ohura; Nobuhiko Shimizu; Kenichi Satomura; Shigeru Tsuchiya
Journal:  Eur J Pediatr       Date:  2008-05-14       Impact factor: 3.183

8.  Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.

Authors:  Marc Fila; Vincent Morinière; Philippe Eckart; Joelle Terzic; Marie-Claire Gubler; Corinne Antignac; Laurence Heidet
Journal:  Pediatr Nephrol       Date:  2020-03-20       Impact factor: 3.714

9.  Fetal renal maldevelopment with oligohydramnios following maternal use of piroxicam.

Authors:  L E Voyer; R Drut; J H Méndez
Journal:  Pediatr Nephrol       Date:  1994-10       Impact factor: 3.714

10.  Renal tubular dysgenesis without pulmonary hypoplasia.

Authors:  A Scarcella; C Pecoraro; M R D'Agnello; A N Sole
Journal:  Pediatr Nephrol       Date:  1994-04       Impact factor: 3.714
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