A group of heterogenous genetic diseases (1) with defects in one of several subunits of type IV collagen that cause progressive hematuric nephritis, ocular abnormalities (2) and sen...
Gross hematuria (2/3 of preschool boys with X-linked type)
Less common in girls
May be triggered by upper airway infections
Infrequent in adults
Microhematuria (± symptoms)
More common tha...
No effective medical cure
BP goals:
<70th percentile in children
<130/80 mm Hg in adults
Hearing monitoring and rehabilitation with devices
Periodic ophthalmologic exams
Rena...
No specific restrictions
Pregnancy: Outpatient pregnancy monitoring appears appropriate if renal function (proteinuria, serum albumin, and creatinine) and BP remai...
Alport syndrome — symptoms, causes, treatment. NORD. Available at: https://rarediseases.org/rare-diseases/alport-syndrome/. Accessed March 31, 2023.
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AS is caused by mutations that arrest the normal development of collagen in the GBM, cochlea, and the lens capsule.
AS should be considered in patients with hypertension, hearing loss, ...
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