Literature DB >> 23412821

Familial LCAT deficiency: from renal replacement to enzyme replacement.

R M Stoekenbroek1, M A van den Bergh Weerman, G K Hovingh, B J Potter van Loon, C E H Siegert, A G Holleboom.   

Abstract

Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development.

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Year:  2013        PMID： 23412821

Source DB:  PubMed          Journal:  Neth J Med        ISSN： 0300-2977            Impact factor:   1.422


  6 in total

1.  Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Authors:  Singh N Sadananda; Jia Nee Foo; Meng Tiak Toh; Lubomira Cermakova; Laia Trigueros-Motos; Teddy Chan; Herty Liany; Jennifer A Collins; Sima Gerami; Roshni R Singaraja; Michael R Hayden; Gordon A Francis; Jiri Frohlich; Chiea Chuen Khor; Liam R Brunham
Journal:  J Lipid Res       Date:  2015-08-08       Impact factor: 5.922

Review 2.  Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency.

Authors:  Shuma Hirashio; Toshinori Ueno; Takayuki Naito; Takao Masaki
Journal:  Clin Exp Nephrol       Date:  2013-10-31       Impact factor: 2.801

Review 3.  High-density lipoprotein metabolism, composition, function, and deficiency.

Authors:  Ernst J Schaefer; Pimjai Anthanont; Bela F Asztalos
Journal:  Curr Opin Lipidol       Date:  2014-06       Impact factor: 4.776

4.  Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency.

Authors:  Itziar Lamiquiz-Moneo; Fernando Civeira; Diego Gómez-Coronado; Francisco Blanco-Vaca; Hilda Mercedes Villafuerte-Ledesma; Miriam Gil; Nuria Amigó; Rocío Mateo-Gallego; Ana Cenarro
Journal:  J Clin Med       Date:  2019-11-03       Impact factor: 4.241

5.  An unusual case of nephrotic syndrome.

Authors:  M Sahay; P S Vali; K Ismal; S Gowrishankar; M D Padua; M Swain
Journal:  Indian J Nephrol       Date:  2016 Jan-Feb

Review 6.  A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Authors:  Cecilia Vitali; Archna Bajaj; Christina Nguyen; Jill Schnall; Jinbo Chen; Kostas Stylianou; Daniel J Rader; Marina Cuchel
Journal:  J Lipid Res       Date:  2022-01-20       Impact factor: 5.922
  6 in total

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