- Defects in type IV collagen synthesis
- most common form X-linked recessive
- Hereditary nephritis,
- deafness +/- ocular disturbances (type IV collagen important in BM of kidney, ears, eyes)
Alport syndrome is due to the mutation in the genes encoding
A. Type I collagen
B. Type II collagen
C. Type III collagen
D. Type IV collagen
A 12-year-old boy is a member of a family with a history of renal disease, with males more severely affected than females. He is found to have auditory nerve deafness, corneal dystrophy, and ocular lens dislocation. A urinalysis shows microscopic hematuria. A renal biopsy is performed. Microscopically, the glomeruli show glomerular capillaries with irregular basement membrane thickening and attenuation with splitting of the lamina densa. The mesangial matrix is increased and epithelial cells may appear foamy.
Which of the following is the most likely diagnosis?
A. Goodpasture syndrome
B. IgA nephropathy
C. Alport syndrome
D. Dominant polycystic kidney disease
E. Diabetes mellitus, type I
Alport Syndrome is a rare hereditary kidney disease that affects 1 in 5,000 people. It is caused by a genetic mutation that leads to the breakdown of type IV collagen, and as a result, causes failure of the kidneys and often the eyes, and ears, among other functions in the body.
MCB 164 Project: Alport Syndrome
About Alport Syndrome
In the U.S., a rare disease is any one which affects fewer than 200,000 people.
An orphan disease is one not adopted by the pharmaceutical industry as it provides little financial incentive to make and market medications.
Triad of anterior lenticonus, deafness and nephropathy
What Is The Definition Of Alport syndrome (Medical Dictionary Online)
what is the definition of Alport syndrome: A hereditary condition characterized by kidney disease, deafness, and sometimes eye defects. Alport syndrome involves inflammation of the kidney (nephritis), often progressing to kidney failure, and sensory nerve hearing loss. Progression to kidney failure is gradual and usually occurs in males before 50 years of age.