Literature DB >> 9128814

Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease.

E Kattner1, A Schäfer, K Harzer.   

Abstract

UNLABELLED: The authors describe a case of disseminated lipogranulomatosis (Farber disease) presenting as nonimmune hydrops fetalis. This is the tenth lysosomal storage disease which can show this clinical manifestation. The literature is reviewed for all hydrops cases associated with lysosomal storage diseases.
CONCLUSION: Although rare, the lysosomal storage diseases collectively are significant causes of nonimmune hydrops and appropriate investigations are required in all cases of unexplained hydrops fetalis.

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Mesh：

Year:  1997        PMID： 9128814     DOI： 10.1007/s004310050603

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  9 in total

Review 1.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

2.  Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

Authors:  J M van de Kamp; D J Lefeber; G J G Ruijter; S J Steggerda; N S den Hollander; S M Willems; G Matthijs; B J H M Poorthuis; R A Wevers
Journal:  J Med Genet       Date:  2006-12-08       Impact factor: 6.318

Review 3.  Lysosomal storage disorders in the newborn.

Authors:  Orna Staretz-Chacham; Tess C Lang; Mary E LaMarca; Donna Krasnewich; Ellen Sidransky
Journal:  Pediatrics       Date:  2009-04       Impact factor: 7.124

4.  Markedly perturbed hematopoiesis in acid ceramidase deficient mice.

Authors:  Shaalee Dworski; Alexandra Berger; Caren Furlonger; Joshua M Moreau; Makoto Yoshimitsu; Jessa Trentadue; Bryan C Y Au; Christopher J Paige; Jeffrey A Medin
Journal:  Haematologica       Date:  2015-02-14       Impact factor: 9.941

5.  Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

Authors:  Hanan E Shamseldin; Maha Tulbah; Wesam Kurdi; Maha Nemer; Nada Alsahan; Elham Al Mardawi; Ola Khalifa; Amal Hashem; Ahmed Kurdi; Zainab Babay; Dalal K Bubshait; Niema Ibrahim; Firdous Abdulwahab; Zuhair Rahbeeni; Mais Hashem; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2015-06-03       Impact factor: 13.583

6.  LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Authors:  Magali Pettazzoni; Roseline Froissart; Cécile Pagan; Marie T Vanier; Séverine Ruet; Philippe Latour; Nathalie Guffon; Alain Fouilhoux; Dominique P Germain; Thierry Levade; Christine Vianey-Saban; Monique Piraud; David Cheillan
Journal:  PLoS One       Date:  2017-07-27       Impact factor: 3.240

Review 7.  Acid ceramidase deficiency: Farber disease and SMA-PME.

Authors:  Fabian P S Yu; Samuel Amintas; Thierry Levade; Jeffrey A Medin
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123

8.  hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia.

Authors:  Duncan I Mackie; Fuad Al Mutairi; Reema B Davis; Daniel O Kechele; Natalie R Nielsen; Joshua C Snyder; Marc G Caron; Harvey J Kliman; Jonathan S Berg; John Simms; David R Poyner; Kathleen M Caron
Journal:  J Exp Med       Date:  2018-08-16       Impact factor: 17.579

Review 9.  Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

Authors:  Catharina Whybra; Eugen Mengel; Alexandra Russo; Franz Bahlmann; Christoph Kampmann; Michael Beck; Elke Eich; Eva Mildenberger
Journal:  Orphanet J Rare Dis       Date:  2012-11-08       Impact factor: 4.123
  9 in total

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