CLINICAL CASE OF HEREDITARY NEPHROPATHY (ALPORT SYNDROME)

Mild Forms of Alport Syndrome: Hereditary Nephropathy in the Absence of Extra-Renal Features

Alport 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...

Pathological Features of Proteinuric Nephropathy Resembling Alport Syndrome

25 The renal biopsy tissue from a 9-month-old, male Pyrenean Mountain dog with 26 renal disorder and severe proteinuria was examined. Ultrastructural examination 27 revealed multilaminar splitting and fragmentation of the glomerular basement 28 membrane (GBM) and diffuse podocyte foot process effacement. 29 Immunofluorescent staining for α(IV) chains revealed presence of α5(IV) and 30 complete ...

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...

Diagnosis 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...