Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.The disorder was first identified in a British family by the physician Cecil A. Alport in 1927. Alport syndrome once also had the label hereditary nephritis, but this is misleading as there are many other causes of hereditary kidney disease and nephritis. Alport syndrome is caused by an inherited defect in type IV collagen—a structural material that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc.). Depending on where the mutation is located in the genome, Alport syndrome can present itself in many forms. This includes X-linked Alport syndrome (XLAS), autosomal recessive Alport syndrome (ARAS), and autosomal dominant Alport syndrome (ADAS). Signs and symptoms
These descriptions refer to classic Alport syndrome, which usually causes significant disease from young adult or late childhood life. Some individuals, usually with milder mutations or carrier status, develop disease later, or show only some of the features of classic disease. Chronic kidney disease
Blood in urine is a usual feature of Alport syndrome from early infancy, identifiable on urine dipsticks.
IgA pemphigus is a subtype of pemphigus with two distinct forms:

Subcorneal pustular dermatosis (also known as Sneddon–Wilkinson disease and pustulosis subcornealis) is skin condition that is a rare, chronic, recurrent, pustular eruption characterized histopathologically by subcorneal pustules that contain abundant neutrophils. : 203  This is distinct from and not to be confused with subcorneal pustular dermatosis type of IgA pemphigus. Sneddons syndrome, also known as Ehrmann-Sneddon syndrome, is also a different syndrome. Intraepidermal neutrophilic IgA dermatosis is characterized histologically by intraepidermal bullae with neutrophils, some eosinophils, and acantholysis. : 465

History
Early descriptions were made by Darrell Wilkinson, a British dermatologist. See also
Pemphigus
List of cutaneous conditions
List of conditions caused by problems with junctional proteins
List of immunofluorescence findings for autoimmune bullous conditions

References


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