Final answer:
Hematuria and deafness in a child are indicative of Alport Syndrome, a genetic disorder affecting the basement membranes and leading to kidney disease and hearing loss. It is inherited in X-linked, autosomal recessive, or autosomal dominant patterns.
Step-by-step explanation:
The combination of hematuria (presence of blood in urine) and deafness in a child suggests a diagnosis of Alport Syndrome, which is a genetic condition affecting the basement membranes of the kidneys, ears, and eyes, leading to kidney disease, hearing loss, and eye abnormalities. The pathophysiology of Alport Syndrome involves a mutation in one of the genes responsible for the production of type IV collagen, an essential component of the basement membrane. This genetic defect leads to abnormal kidney glomerular filtration, which can present as hematuria, proteinuria, and progression to chronic kidney disease. Additionally, similar defects in the ear lead to sensorineural deafness. In terms of inheritance, Alport Syndrome can be transmitted in an X-linked (most commonly), autosomal recessive, or autosomal dominant manner, depending on the affected gene. Identification requires a comprehensive family history and genetic testing.