title: A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.
abstract: Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS) had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.
authors.affiliation: Department of Pediatrics, Genetics Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Al-Haggar
authors.affiliation: Nephrology Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Ashraf
authors.initials: A
authors.lastname: Bakr
authors.affiliation: Department of Pediatrics, Genetics Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Yahya
authors.initials: Y
authors.lastname: Wahba
authors.affiliation: Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Coucke
authors.affiliation: Department of Pathology and Department of Pediatrics, Mansoura University, Mansoura, Egypt.
authors.forename: Fatma
authors.initials: F
authors.lastname: El-Hussini
authors.affiliation: Cardiology Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Mona
authors.initials: M
authors.lastname: Hafez
authors.affiliation: Nephrology Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Riham
authors.initials: R
authors.lastname: Eid
authors.affiliation: Department of Pediatrics, Genetics Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Abdel-Rahman
authors.initials: AR
authors.lastname: Eid
authors.affiliation: Nephrology Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Amr
authors.initials: A
authors.lastname: Sarhan
authors.affiliation: Department of Pediatrics, Genetics Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Ali
authors.initials: A
authors.lastname: Shaltout
authors.affiliation: Department of Pediatrics, Genetics Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Ayman
authors.initials: A
authors.lastname: Hammad
authors.affiliation: Department of Pediatrics, Genetics Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Sohier
authors.initials: S
authors.lastname: Yahia
authors.affiliation: Nephrology Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Ahmad
authors.initials: A
authors.lastname: El-Rifaie
authors.affiliation: Department of Pediatrics, Genetics Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Dina
authors.initials: D
authors.lastname: Abdel-Hadi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D000071838:Fibrillin-1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications* / Q000175:diagnosis; D040941:Heredity; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000209:etiology*; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D055815:Young Adult; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; C000605722:FBN1 protein, human; D054392:Adipokines