X - LINKED DOMINANT

Question 1

A hereditary renal phosphate-wasting disorder characterized hypophosphatemia, rickets and/or osteomalacia, and diminished growth.

The primary mechanism is defective phosphate reabsorption in the renal proximal tubule that results in excessive phosphaturia.

Answer 1

X - linked hypophosphatemia

Question 2

X - linked hypophosphatemia

Gene

Answer 2

Phosphate-regulating endopeptidase X-linked
(PHEX)

Question 3

X - linked hypophosphatemia

Protein

Answer 3

Fibroblast growth factor 23 (FGF 23)

Question 4

Bone deformities
Short stature
Dental anomalies
Increased activity of serum alkaline phosphatases

Answer 4

X - linked hypophosphatemia

Question 5

A familial renal disease associated with mutations in collagen genes that manifest primarily with glomerular injury.

In the X-linked form, males express the full syndrome, while female heterozygotes typically present with hematuria

The disease manifestations are due to mutations in one of several genes coding for subunits of the collagen IV molecule.

Answer 5

Alport syndrome

Question 6

Alport syndrome gene

Answer 6

Collagen-4-alpha-5- chain
(COL4A5)

Question 7

When fully developed, is manifest by:
Hematuria with progression to chronic renal failure
Accompanied by nerve deafness
Various eye disorders, including lens dislocation, posterior cataracts, and corneal dystrophy.
Kidney disease
Proteinuria

Answer 7

Alport syndrome

Question 8

Alport syndrome

Question 9

Alport syndrome

Question 10

Alport syndrome