A novel fibrillin-1 mutation in an Egyptian marfan family : a proband showing nephrotic syndrome due to focal segmental glomerulosclerosis

• Published in: Saudi journal of kidney diseases and transplantation 2017, Vol.28 (1), p.141-148
• Main Authors: al-Rifai, Ahmad, Abd al-Hadi, Dina, al-Hajjar, Muhammad, Yahya, Suhayr, Hammad, Ayman, Shaltout, Ali, Sarhan, Amr, Id, Abd al-Rahman, Id, Riham, Hafiz, Muna, al-Husayni, Fatimah, Coucke, Paul J., Bakr, Ashraf, Wahba, Yahya
• Format: Article
• Language: English
• Subjects: Adolescent; Age; Biopsy; Child; Child, Preschool; DNA Mutational Analysis; Family medical history; Female; Fibrillin-1 - genetics; Gene expression; Gene mutation; Genetic aspects; Genetic Predisposition to Disease; Glomerulosclerosis, Focal Segmental - complications; Glomerulosclerosis, Focal Segmental - diagnosis; Heredity; Humans; Laboratories; Male; Marfan syndrome; Marfan Syndrome - complications; Marfan Syndrome - diagnosis; Marfan Syndrome - genetics; Middle Aged; Mutation; Nephrotic syndrome; Nephrotic Syndrome - diagnosis; Nephrotic Syndrome - etiology; Patients; Pedigree; Phenotype; Risk Factors; Rodents; Signs; Urinalysis; Young Adult; الأمراض; الكلى; المتلازمة الكلوية; المرضى; متلازمة مارفان
• ISSN: 1319-2442; 2320-3838
• DOI: 10.4103/1319-2442.198166

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.