Alport Syndrome

Question 1

What is Alport Syndrome ….?

Answer 1

Alport syndrome (AS), or hereditary nephritis, is a genetically heterogeneous disease caused by mutations in the genes coding for type IV collagen, a major component of basement membranes

Question 2

Inheritance pattern of Alport syndrome … ?

Answer 2

Approximately 85% of patients have X-linked inheritance(COL4A5 and COL4A6 )

An autosomal dominant form of AS linked to the COL4A3-COL4A4 gene locus occurs in 5% of cases.

Question 3

Fechtner syndrome ….?

Answer 3

Fechtner syndrome (AS with macrothrombocytopenia) is an autosomal dominant disorder due to mutations in MYH9

Hereditary angiopathy with nephropathy-aneurysms-muscle cramps (HANAC) may initially resemble AS. HANAC is due to mutations in the COL4A1 gene.

Question 4

CLINICAL MANIFESTATIONS of AS …..?

Answer 4

All patients with AS have asymptomatic microscopic hematuria, which may be intermittent in females and younger males.

Single or recurrent episodes of gross hematuria commonly occurring 1-2 days after an upper respiratory infection are seen in approximately 50% of patients

Question 5

Eye abnormality in AS ….?

Answer 5

The presence of anterior lenticonus is pathognomonic.

Question 6

T he risk factors of progressive renal dysfunction leading to end-stage renal disease (ESRD) in AS ….?

Answer 6

Risk factors for progression are gross hematuria during childhood, nephrotic syndrome, and prominent GBM thickening

Question 7

Role of angiotensin-converting enzyme inhibitors (and possibly angiotensin-2 receptor inhibitors in As …..?

Answer 7

can slow the rate of progression ‘