20-6 (Cystic Diseases) Flashcards
What age group is affected by Autosomal Dominant Polycystic Kidney Damage?
Adults
Is Autosomal Dominant Polycystic Kidney Disease unilateral or bilateral?
Bilateral
With Autosomal Dominant Polycystic Kidney Disease, there are multiple expanding cysts in both kidneys. What does that destroy and what is the result?
- Destroys parenchyma
- Renal failure
With Autosomal Dominant Polycystic Kidney Disease, the patient inherits 1 copy of mutated ______ gene
APKD gene
What are the 2 most common genes mutated with Autosomal Dominant Polycystic Kidney Disease?
PKD1 – more severe
PKD2 – onset is later
On what chromosomes are PKD1 and PKD2 genes with Autosomal Dominant Polycystic Kidney Disease?
PKD1 - 16
PKD2 - 4
With Autosomal Dominant Polycystic Kidney Disease, what proteins do the mutated genes encode?
Polycystin 1 and Polycystin 2
What is the main pathologic mechanism with Autosomal Dominant Polycystic Kidney Disease and therefore, what ion is increased?
Altered mechanosensation of the tubular cell cilia
–> Increases calcium
With Autosomal Dominant Polycystic Kidney Disease, the altered mechanosensation of the cilium in the tubules causes increased calcium. What 2 mechanisms does that cause in order for cysts to form?
- Proliferation and secretion from epithelial cells
2. Abnormal ECM
If the kidneys are bilaterally enlarged with cysts everywhere, that is likely what disease?
Autosomal Dominant Polycystic Kidney Disease
What does abdominal palpation induce with Autosomal Dominant Polycystic Kidney Disease?
Dragging sensation of the enlarged kidneys
Some patients are asymptomatic until later stages and some patients have pain with Autosomal Dominant Polycystic Kidney Disease. What is a common manifestation?
Insidious hematuria –> polyuria, proteinuria and HTN
Some patients are asymptomatic until later stages and some patients have pain with Autosomal Dominant Polycystic Kidney Disease. What is a common manifestation?
Insidious hematuria –> polyuria, proteinuria, HTN
In what 3 populations is the progression to renal failure accelerated with Autosomal Dominant Polycystic Kidney Disease?
- Blacks with sickle cell trait
- Males
- HTN
People with Autosomal Dominant Polycystic Kidney Disease commonly have extrarenal congenital anomalies. What are the 3 most common?
- Liver cysts
- Intracranial berry aneurysms
- Mitral valve prolapse
How do patients usually die from Autosomal Dominant Polycystic Kidney Disease and what are the common extrarenal anomalies they have?
- Heart disease
- Intracranial hemorrhage
(liver cysts, intracranial aneurysm, mitral valve prolapse)
When does Autosomal Recessive Polycystic Kidney Disease present?
Childhood
With Autosomal Recessive Polycystic Kidney Disease, what gene is mutated and on what chromosome?
PKHD1 gene
– Chromosome 6
With Autosomal Recessive Polycystic Kidney Disease, the PKHD1 gene is mutated. What protein does that encode and where is found?
Fibrocystin
– Also found on the tubular cell cilia
With Autosomal Recessive Polycystic Kidney Disease, a majority of children are compound _____
Compound heterozygotes
– 1 mutant allele from each parent
How do the kidneys look with Autosomal Recessive Polycystic Kidney Disease?
Enlarged with smooth appearance
When the kidney is cut open, what things will be seen with Autosomal Recessive Polycystic Kidney Disease?
- Small cysts in the cortex and medulla
2. Dilated channels replace the cortex and medulla
If a child with Autosomal Recessive Polycystic Kidney Disease survives, what is the primary concern?
Hepatic fibrosis/disease
PKHD1 gene mutation
Autosomal Recessive (childhood) Polycystic Kidney Disease
