Anatomic Abnormalities Associated With Hematuria

Question 1

Autosomal recessive polycystic kidney disease (ARPKD) also known as …..?

Answer 1

ARPKD-congenital hepatic fibrosis [CHF]

Question 2

The gene for ARPKD …?

Answer 2

PKHD1 [polycystic kidney and hepatic disease 1] encodes fibrocystin, a large protein (>4,000 amino acids) with multiple isoforms.

Question 3

Characteristics liver pattern in ARPKD …?

Answer 3

Liver involvement is characterized by a basic ductal plate abnormality that leads to bile duct proliferation and ectasia, as well as progressive hepatic fibrosis.

Question 4

Autosomal dominant polycystic kidney disease (ADPKD), also known as …?

Answer 4

Adult -onset polycystic kidney disease, is the most common hereditary human kidney disease

Question 5

Organs involved in ADPKD ..?

Answer 5

It is a systemic disorder with possible cyst formation in multiple organs (liver, pancreas, spleen, brain) and the development of saccular cerebral aneurysms.

Question 6

Gene responsible for ADPKD ….?

Answer 6

PKD1

PKD2

GANAB have been reported in PKD1- and PKD2-negative patients.

Question 7

Important cause of mortality in adults, but occasionally occur in children ADPKD …?

Answer 7

Intracranial aneurysms,

Question 8

Most common cardiac defect in ADPKD ?.

Answer 8

MVP

Question 9

Drugs used for ADPKD …?

Answer 9

T hese potential therapies include renin–angiotensin blockade,

vasopressin V2 receptor antagonism (tolvaptan), and

somatostatin analogues