#4881 NEPHROPROTECTION IN BOYS WITH X-LINKED ALPORT SYNDROME: THE SOONER THE BETTER
نویسندگان
چکیده
Abstract Background and Aims Proteinuria (Pr) is a marker of glomerular diseases progression. The aim study was to define the efficiency angiotensin-converting enzyme inhibitors (ACEi) treatment in prevention Pr development boys with X-linked Alport's syndrome (XLAS). Method Single center observation included confirmed XLAS (n = 87). Twenty nine pts (1gr) started ACEi (enalapril 4.2±1.4 mg/m2/day) non-proteinuric stage disease (Pr≤100 mg/m2/day); mean age 6.2±3.9 yrs, eGFR Schwartz 118±15.2 ml/min/1.73 m2, 67±23 mg/m2/day. Fifty eight (2gr) without preemptive were observed from 6.8±4.9 119±17.3 87±43 Follow up at last 11.7±3.9 yrs vs 14.2±4.6 (p 0.67) 1gr 2gr, respectively. occurrence (Pr>100 defined as primary end point study. Results had lower rate (0.48 0.94, p<0.001) higher (10.2±3.9 4.9±3.4 p 0.3) than 2gr. reduced risk onset (OR 0.05(95%CI 0.013-0.2)) absolute reduction by 47% (RD 0.47) number treated prevent (NNT) 2.14. No difference revealed between therapy start (7.1±3.3 6.3±2.8 yrs), dose (2.3±0.8 2.1±0.6 COL4A5 gene mutation type (missense variants 0.72 0.86). Arterial hypertension factor (χ2 4,42, 0.04); children older observation: 13.5±3.2 9.9±3.8 0.47. side effects observed. Conclusion early halves may progression these patients.
منابع مشابه
X-linked Alport syndrome
X-linked Alport syndrome (AS) is a heritable disorder which is associated with mutations in the type IV collagen oc5(IV) chain gene (COL4A5) located on chromosome X. Following renal transplantation, an average of 6% of male AS patients develop anti-GBM nephritis. We studied the specificity of the antibodies against type IV collagen in the serum of a patient with COL4A5 partial deletion. The spe...
متن کاملThe variable course of women with X-linked Alport Syndrome
X-linked Alport syndrome (XLAS) arises from mutations in the COL4A5 gene encoding the α5-chain of type IV collagen and is associated with hematuria, ocular abnormalities and high-tone sensorineural hearing loss. Nearly all affected males have decreased kidney function resulting in end-stage renal disease (ESRD) as early as the second decade of life. It was long thought that affected females had...
متن کاملMouse model of X-linked Alport syndrome.
X-linked Alport syndrome (XLAS) is a progressive disorder of basement membranes caused by mutations in the COL4A5 gene, encoding the alpha5 chain of type IV collagen. A mouse model of this disorder was generated by targeting a human nonsense mutation, G5X, to the mouse Col4a5 gene. As predicted for a nonsense mutation, hemizygous mutant male mice are null and heterozygous carrier female mice ar...
متن کاملPhenotypic heterogeneity in females with X-linked Alport syndrome
AIMS X-linked Alport syndrome (AS) is a monogenic inherited disorder of type IV collagen, a structural protein in the kidney and cochlea. Males typically exhibit a severe phenotype with end-stage renal disease (ESRD) and/or deafness by early adulthood. Because of the presence of two X chromosomes, females often have a less severe phenotype and hence the diagnosis of AS is often not considered. ...
متن کاملTemporal macular thinning associated with X-linked Alport syndrome.
IMPORTANCE Optical coherence tomography (OCT) findings of temporal macular thinning are important in the diagnosis and prognosis of X-linked Alport syndrome (XLAS). OBJECTIVES To report OCT findings and severity of temporal macular thinning in a cohort with XLAS and to correlate these and other ocular findings with mutation genotype. DESIGN Patients with XLAS underwent genotyping for COL4A5...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2023
ISSN: ['1460-2385', '0931-0509']
DOI: https://doi.org/10.1093/ndt/gfad063c_4881