Literature DB >> 1536230

Prenatal diagnosis of autosomal recessive polycystic kidney disease: variable outcome within one family.

R A Barth1, A P Guillot, E L Capeless, J J Clemmons.   

Abstract

Autosomal recessive polycystic kidney disease is frequently diagnosed in utero by obstetric ultrasonography. We report a case in which there were varying outcomes of this disorder in three affected fetuses in a family. Recognition of variable expression within one family is important when parents are considering termination of a pregnancy with an affected fetus.

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Year:  1992        PMID: 1536230     DOI: 10.1016/0002-9378(92)91672-w

Source DB:  PubMed          Journal:  Am J Obstet Gynecol        ISSN: 0002-9378            Impact factor:   8.661


  4 in total

1.  Recombinant human growth hormone therapy in autosomal recessive polycystic kidney disease.

Authors:  Marusia Lilova; Bernard S Kaplan; Kevin E C Meyers
Journal:  Pediatr Nephrol       Date:  2002-11-26       Impact factor: 3.714

2.  Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Authors:  Ramona Ajiri; Kathrin Burgmaier; Nurver Akinci; Ilse Broekaert; Anja Büscher; Ismail Dursun; Ali Duzova; Loai Akram Eid; Marc Fila; Michaela Gessner; Ibrahim Gokce; Laura Massella; Antonio Mastrangelo; Monika Miklaszewska; Larisa Prikhodina; Bruno Ranchin; Nadejda Ranguelov; Rina Rus; Lale Sever; Julia Thumfart; Lutz Thorsten Weber; Elke Wühl; Alev Yilmaz; Jörg Dötsch; Franz Schaefer; Max Christoph Liebau
Journal:  Kidney Int Rep       Date:  2022-05-04

Review 3.  Perinatal assessment of hereditary cystic renal diseases: the contribution of sonography.

Authors:  Fred E Avni; Laurent Garel; Marie Cassart; Anne Massez; Daniele Eurin; François Didier; Michelle Hall; Rita L Teele
Journal:  Pediatr Radiol       Date:  2006-02-04

4.  The Enigma of Clinical Heterogeneity Among Autosomal Recessive Polycystic Kidney Disease Siblings: PKHD1 Genotype Versus Other Genomic or Environmental Modifier.

Authors:  Priti Meena; Katharina Hopp
Journal:  Kidney Int Rep       Date:  2022-05-02
  4 in total

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