Alport Syndrome Classification and Management
نویسندگان
چکیده
منابع مشابه
Alport Syndrome
A.K. was a 5-year-old boy who presented to the pediatric nephrology clinic with a recent finding of microscopic hematuria and proteinuria on routine screening. The analysis was repeated two weeks later with persistence of hematuria and proteinuria. A complete blood count (CBC) and a metabolic panel (Chem7) were both normal. Renal ultrasound was performed which was also normal and without hydron...
متن کاملLong-term management of Alport syndrome in pediatric patients
Correspondence: Clifford E Kashtan Department of Pediatrics, Division of Nephrology, 2450 Riverside Avenue, East Building, 6th Floor, MB679 University of Minnesota Medical School, Minneapolis, MN, USA Email [email protected] Abstract: Alport syndrome, an important inherited cause of end-stage renal disease, has long been considered an untreatable disorder. That view is changing as a result of tr...
متن کاملDiagnosis of Alport syndrome
chain altered distribution in a much higher proportion of patients with X-linked AS [5]. It is our experience that skin biopsy, examined with conventional, and if needed, with confocal microscopy, is able to virtually detect (almost) all cases of X-linked AS [5], thus allowing to avoid or to postpone more invasive and/or expensive diagnostic procedure like renal biopsy and genetic investigation...
متن کاملX-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 کاملAlport syndrome: clinical update.
This review of the literature on Alport syndrome (AS) places emphasis on genetic and clinical issues related to the sensorineural hearing loss in type III and type IV X-linked AS. The review covers prevalence, medical issues, genetic issues, audiologic findings, vestibular findings, the pathophysiology of hearing loss in type III AS, age- and phenotype-specific normative data and concludes with...
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ژورنال
عنوان ژورنال: Kidney Medicine
سال: 2020
ISSN: 2590-0595
DOI: 10.1016/j.xkme.2020.05.014