Journal of Clinical & Experimental Nephrology

Autosomal Dominant Alport Syndrome: A Case Report of an Increasingly Frequent Alport Syndrome Variant

Alport syndrome is a hereditary entity that consists of alterations in the structure of collagen type IV that leads to renal and extrarenal compromise. It is clinically characterized by hematuria persistent microscopic and occasionally macroscopic, sensorineural deafness, alterations eye problems (ocular lenticone former) and progression to endstage renal disease. Mutations in the COL4A5 gene are responsible for sex-linked syndrome, which represent 85% of the cases. The remaining 15% corresponds to alport cases of autosomal inheritance (14% recessive and 1% dominant) in which cases intervene the COL4A3 and COL4A4 genes. The clinical characteristics of Alport syndrome linked to sex are the best known, in which the men are affected more frequently and are the ones who progress to End-Stage Renal Disease (ESRD), women are generally carriers. In autosomal forms, the organic commitment is similar but affects men and women the same, the objective of presenting this case was to review and highlight a rare disease to consider in the differential diagnosis of patients with hematuria and kidney failure. The objective of presenting this case was to review and highlight within a disease, which is already rare, where the most frequent type of mutation is the one linked to the X chromosome, a case report of Alport syndrome of autosomal dominant inheritance, in a patient who comes for clinical situation different from clinical manifestations of kidney disease and in which analytical studies and radiological imaging tests (ultrasound and computed axial tomography) reveal advanced chronic kidney disease in which the patient definitively requires renal replacement therapy (hemodialysis). periodically waiting to be included in the kidney transplant waiting list.

Author(s):

Abstract | Full-Text | PDF

Share this