title: Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families.
abstract: We carried out a protein and genetic investigation of the factor H gene mutations within two families presenting with a diagnostic suspicion of atypical hemolytic uremic syndrome (aHUS). The results within the patients of the first family revealed a factor H-deficiency. Direct sequencing allowed the detection of a 4-nucleotide deletion in the factor H gene. This deletion was found as the homozygote form in the proband and as the heterozygote form in the parents. Protein and functional analyses of the complement system were normal in all members of the second family. However, the molecular investigation for the father showed the presence of an amino acid substitution in the FH gene. Unfortunately, his two affected children died without being investigated for mutations. The functional consequences of these abnormal proteins are still to be demonstrated.
authors.affiliation: Laboratory of Immunology, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Habibi
authors.forename: Imen
authors.initials: I
authors.lastname: Sfar
authors.forename: Walid
authors.initials: W
authors.lastname: Ben Alaya
authors.forename: Jihen
authors.initials: J
authors.lastname: Methlouthi
authors.forename: Abdelkrim
authors.initials: A
authors.lastname: Ayadi
authors.forename: Mounira
authors.initials: M
authors.lastname: Brahim
authors.forename: Jacques
authors.initials: J
authors.lastname: Blouin
authors.forename: Raoudha
authors.initials: R
authors.lastname: Dhagbouj
authors.forename: Thouraya
authors.initials: T
authors.lastname: Ben Rhomdhane
authors.forename: Mouna
authors.initials: M
authors.lastname: Makhlouf
authors.forename: Houda
authors.initials: H
authors.lastname: Aouadi
authors.forename: Saloua
authors.initials: S
authors.lastname: Ayed-Jendoubi
authors.forename: Véronique
authors.initials: V
authors.lastname: Fremeaux-Bacchi
authors.forename: Tahar
authors.initials: T
authors.lastname: Sfar
authors.forename: Taieb
authors.initials: T
authors.lastname: Ben Abdallah
authors.forename: Khaled
authors.initials: K
authors.lastname: Ayed
authors.forename: Yousr
authors.initials: Y
authors.lastname: Gorgi