Literature DB >> 19568827

Hemolytic uremic syndrome due to homozygous factor H deficiency.

Sidharth Kumar Sethi1, Dragon-Durey Marie-Agnes2, Neelam Thaker1, Pankaj Hari1, Arvind Bagga3.   

Abstract

The majority of complement factor H mutations associated with atypical hemolytic uremic syndrome (HUS) are heterozygous. Homozygous mutations causing atypical hemolytic uremic syndrome are rare. We report a 7-month-old boy with HUS, severe hypocomplementemia (low C3 and normal C4 levels), and extremely low circulating levels of factor H. Genetic analysis showed homozygous 4 bp deletion in the gene encoding factor H in the patient, with his parents being carriers. The patient showed progression to end-stage renal disease and is presently on chronic ambulatory peritoneal dialysis.

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19568827     DOI： 10.1007/s10157-009-0205-3

Source DB:  PubMed          Journal:  Clin Exp Nephrol        ISSN： 1342-1751            Impact factor:   2.801


  20 in total

1.  Guidelines on the diagnosis and management of the thrombotic microangiopathic haemolytic anaemias.

Authors:  Sarah L Allford; Beverley J Hunt; Peter Rose; Samuel J Machin
Journal:  Br J Haematol       Date:  2003-02       Impact factor: 6.998

2.  Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.

Authors:  B H Ault; B Z Schmidt; N L Fowler; C E Kashtan; A E Ahmed; B A Vogt; H R Colten
Journal:  J Biol Chem       Date:  1997-10-03       Impact factor: 5.157

3.  Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

Authors:  Jessica Caprioli; Marina Noris; Simona Brioschi; Gaia Pianetti; Federica Castelletti; Paola Bettinaglio; Caterina Mele; Elena Bresin; Linda Cassis; Sara Gamba; Francesca Porrati; Sara Bucchioni; Giuseppe Monteferrante; Celia J Fang; M K Liszewski; David Kavanagh; John P Atkinson; Giuseppe Remuzzi
Journal:  Blood       Date:  2006-04-18       Impact factor: 22.113

4.  Familial hemolytic uremic syndrome associated with complement factor H deficiency.

Authors:  D Landau; H Shalev; G Levy-Finer; A Polonsky; Y Segev; L Katchko
Journal:  J Pediatr       Date:  2001-03       Impact factor: 4.406

5.  Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency.

Authors:  B Z Schmidt; N L Fowler; T Hidvegi; D H Perlmutter; H R Colten
Journal:  J Biol Chem       Date:  1999-04-23       Impact factor: 5.157

6.  Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation.

Authors:  J M Saland; S H Emre; B L Shneider; C Benchimol; S Ames; J S Bromberg; G Remuzzi; L Strain; T H J Goodship
Journal:  Am J Transplant       Date:  2006-08       Impact factor: 8.086

7.  Human alternative complement pathway: membrane-associated sialic acid regulates the competition between B and beta1 H for cell-bound C3b.

Authors:  M D Kazatchkine; D T Fearon; K F Austen
Journal:  J Immunol       Date:  1979-01       Impact factor: 5.422

8.  Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.

Authors:  Anne-Laure Sellier-Leclerc; Veronique Fremeaux-Bacchi; Marie-Agnès Dragon-Durey; Marie-Alice Macher; Patrick Niaudet; Geneviève Guest; Bernard Boudailliez; François Bouissou; Georges Deschenes; Sophie Gie; Michel Tsimaratos; Michel Fischbach; Denis Morin; Hubert Nivet; Corinne Alberti; Chantal Loirat
Journal:  J Am Soc Nephrol       Date:  2007-06-28       Impact factor: 10.121

9.  Familial hemolytic-uremic syndrome and homozygous factor H deficiency.

Authors:  V Pichette; S Quérin; W Schürch; G Brun; G Lehner-Netsch; J M Delâge
Journal:  Am J Kidney Dis       Date:  1994-12       Impact factor: 8.860

10.  Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome.

Authors:  F Vaziri-Sani; L Holmberg; A G Sjöholm; A-C Kristoffersson; M Manea; V Frémeaux-Bacchi; I Fehrman-Ekholm; R Raafat; D Karpman
Journal:  Kidney Int       Date:  2006-03       Impact factor: 10.612
View more
  7 in total

1.  Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation.

Authors:  F Semsa Cayci; Nilgun Cakar; Veysel Sabri Hancer; Nermin Uncu; Banu Acar; Gokce Gur
Journal:  Pediatr Nephrol       Date:  2012-08-19       Impact factor: 3.714

Review 2.  aHUS caused by complement dysregulation: new therapies on the horizon.

Authors:  Aoife M Waters; Christoph Licht
Journal:  Pediatr Nephrol       Date:  2010-06-18       Impact factor: 3.714

3.  Severe atypical HUS caused by CFH S1191L--case presentation and review of treatment options.

Authors:  Sudarsana De; Aoife M Waters; Audrey O Segal; Agnes Trautmann; Elizabeth A Harvey; Christoph Licht
Journal:  Pediatr Nephrol       Date:  2009-10-24       Impact factor: 3.714

4.  Assesment, treatment and prevention of atypical hemolytic uremic syndrome.

Authors:  Azar Nickavar; Kambiz Sotoudeh
Journal:  Int J Prev Med       Date:  2013-01

Review 5.  Atypical hemolytic uremic syndrome.

Authors:  Chantal Loirat; Véronique Frémeaux-Bacchi
Journal:  Orphanet J Rare Dis       Date:  2011-09-08       Impact factor: 4.123

6.  Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families.

Authors:  Imen Habibi; Imen Sfar; Walid Ben Alaya; Jihen Methlouthi; Abdelkrim Ayadi; Mounira Brahim; Jacques Blouin; Raoudha Dhagbouj; Thouraya Ben Rhomdhane; Mouna Makhlouf; Houda Aouadi; Saloua Ayed-Jendoubi; Véronique Fremeaux-Bacchi; Tahar Sfar; Taieb Ben Abdallah; Khaled Ayed; Yousr Gorgi
Journal:  Int J Nephrol Renovasc Dis       Date:  2010-07-01

7.  Atypical Hemolytic Uremic Syndrome: Differential Diagnosis from TTP/HUS and Management.

Authors:  Mustafa N Yenerel
Journal:  Turk J Haematol       Date:  2014-09-05       Impact factor: 1.831
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.