Alport Syndrome: Role of Semiology and Genetics

Alport syndrome is a progressive renal disease due to alteration of the glomerular basement membrane secondary to mutation in the COL4A4, COL4A5 and COL4A6 genes of type IV collagen, with 3 inheritance patterns: X-linked, autosomal dominant and autosomal recessive. There is no specific treatment for Alport syndrome; the aim of treatment is to avoid rapid progression to chronic kidney disease and to improve the patient’s quality of life. We report the case of a 5-year-old female who came to the emergency room with a history of abdominal pain and edema in the lower limbs with microscopic hematuria, and the rest of the laboratory and laboratory tests showed findings suggestive of acute appendicitis. A diagnosis of acute appendicitis and nephritic syndrome was made, however, due to persistent hematuria with proteinuria and family history of hematuria, Alport syndrome was suspected.

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