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Medicine

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Kidney

Question
9 out of 14
 

A man 25 yrs old presents with renal failure. His maternal uncle died of renal failure 10 yrs ago. ON slit lamp examination, keratoconus is present. Diagnosis? (AIIMS Nov 2010)



A ADPKD
B ARPKD
C Alport’s syndrome
D Deny-Drash syndrome

Ans. C Alport’s syndrome

Alport Syndrome

Prevalence:1:5000. Variable inheritance (85% are x-linked) (UPSC 2013). The affected genes code for type IV collagen molecules.

Pathology: Thickened GBM with 'splitting'. The Good pasture’s antigen is missing (hence risk of anti

GBM glomerulonephritis post-renal transplant).

Sign:Hematuric nephritis, sensorineural deafness, and progressive renal failure.

Some have lenticonus: bulging of lens capsule seen on slit-lamp examination.

Criteria for the clinical diagnosis

There are 10 criteria for the diagnosis of Alport syndrome, 4 of the 10 criteria must be met:

i. Family history of nephritis of unexplained haematuria in a first degree relative of the index case or in a male relative linked through any numbers of females.

ii. Persistent haematuria without evidence of another possibly inherited nephropathy such as thin GBM disease, polycystic kidney disease or IgA nephropathy.

iii. Bilateral sensorineural hearing loss

iv. A mutation in COL4A 1,2,3,4,5,6 .

v. Immunohistochemical evidence of complete or partial lack of the Alport epitope in glomerular, or epidermal basement membranes, or both.

vi. Widespread GBM ultrastructural abnormalities, (thickening, thinning and splitting).

vii. Ocular lesions including anterior lenticonus, posterior subcapsular cataract, posterior polymorphous dystrophy and retinal flecks.

viii. Gradual progression to ESRD in the index case of at least two family members.

ix. Macrothrombocytopenia or granulocytic inclusions.

x. Diffuse leiomyomatosis of esophagus or female genitalia, or both.

Kidney Flashcard List

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