![]() (1997) examined the eyes of a family with autosomal recessive Alport syndrome. The mother had normal renal function and no urinary abnormalities at age 53 in the father, who had normal renal function, microhematuria had been found intermittently.Ĭolville et al. The parents shared the same surname and originated from the same small village in Italy. Her 2 affected sisters died of renal failure at age 12 and 8 years. Renal function deteriorated progressively hemodialysis was started at age 18 years and she underwent kidney transplant. The proband from family GA had albuminuria and hematuria at age 8 years. Their consanguineous parents, Berbers from Algeria, tested negative for hematuria and proteinuria. She also had no deafness or ocular abnormalities. The other sister was noted to have microscopic hematuria at age 5, and developed nephrotic syndrome without a decrease in renal function at age 11. Renal biopsy at age 7 years showed thinning and focal thickening of the glomerular basement membrane. ![]() In family BE, 2 sisters were affected: end-stage renal disease developed in the older sister at the age of 14, but no deafness or ocular abnormalities were observed. (1994) reported 2 unrelated families with autosomal recessive Alport syndrome and mutation in the COL4A4 gene. In double heterozygotes, about 75% of triple-helix molecules are expected to be defective, which is greater than 50% in heterozygotes and less than 100% in homozygotes or hemizygotes. (2015) concluded that these observations fit well with the stoichiometry of the molecules of the triple helix. (2015) remarked that this is later than the mean age expected in the autosomal recessive form of Alport syndrome (31 years), but earlier than expected in the autosomal dominant form (56 years). In families 6 and 7, the phenotype in individuals carrying 2 mutations was more severe than expected for the classic autosomal dominant form, with 1 affected individual from each of these families progressing toward end-stage renal disease at 40 years of age. Individuals carrying a heterozygous mutation only in COL4A4 had phenotypes ranging from hematuria to end-stage renal disease. Individuals carrying a heterozygous mutation only in COL4A3 had hematuria. In families 1 through 5 individuals with 2 heterozygous mutations had more severe phenotypes than those with a single heterozygous mutation. In 5 of these patients (families 1 through 5), the 2 mutations were inherited independently (like in trans), and in the other 2 (families 6 and 7) the mutations were inherited on the same chromosome (like in cis). ![]() Seven patients had a combination of mutations in COL4A3 ( 120070) and COL4A4 ( 120131). (2015) identified 11 patients with Alport syndrome who had pathogenic mutations in 2 of the 3 collagen IV genes. Using massively parallel sequencing, Mencarelli et al. ![]()
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