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
There are 2 cystic diseases that involve the renal medulla. What are they?
- Medullary sponge kidney
2. Nepronopthisis
There are 2 cystic diseases that involve the renal medulla. What are they?
- Medullary sponge kidney
2. Nepronophthisis
What is found with Medullary Sponge Kidneys?
Cystic dilations of the collecting ducts in the medulla
collecting ducts = papillary ducts
What is found with Medullary Sponge Kidneys?
Cystic dilations of the collecting ducts in medulla
collecting ducts = papillary ducts
What type of patient will present with a Medullary Sponge Kidney?
Adult with normal renal function
– cystic dilations of the collecting ducts in medulla
What is the most common genetic cause of ESRD in younger people?
Nepronophthisis
What is found with Nepronophthisis?
Cysts in medulla at the corticomedullary junction
What is found with Nepronophthisis?
Cysts in medulla at the corticomedullary junction
What is damaged in order to cause renal insufficiency with Nepronophthisis?
Cortical tubulointerstitial damage
What are the 3 types of Nepronophthisis and what is the most common and what is its inheritance?
- Sporadic
- Familial Juvenile – most common – recessive
- Renal - Retinal dysplasia
What genes can be mutated with Nepronophthsis?
familial juvenile form
NPHP1 -> NPHP11
JBTS2, JBTS3, JBTS9, JBTS11
What genes can be mutated with Nepronophthsis?
NPHP1 –> NPHP11
JBTS2, JBTS3, JBTS9, JBTS11
If a child presents with unexplained renal failure, what should you suspect?
Nepronophthisis
The NPHP genes that are mutated with Nepronophthisis encode what protein and what is an example?
Nephrocystins
ex. Inversin which encodes L->R patterning
Multicystic Renal Dysplasia is sporadic. What is seen on the histo of the kidney?
Islands of undifferentiated mesenchyme, cartilage and immature collecting ducts
Islands of undifferentiated mesenchyme, cartilage and immature collecting ducts could suggest?
Multicystic Renal Dysplasia
What is Multicystic Renal Dysplasia associated with?
Ureter anomalies
In what patients will you see Acquired Cystic Disease?
Patients with ESRD that have undergone prolonged dialysis
Patients with ESRD that have undergone prolonged dialysis will present with what cystic disease?
Acquired Cystic Disease
Acquired Cystic Disease patients have an increased risk for what malignancy?
Renal cell carcinoma
Simple cysts are translucent and involve what portion of the kidney?
Cortex
Describe what Simple Cysts can show on radiographs?
- Hemorrhage of cyst
- -> pain and calcification
- -> bizarre radiographic shadows
Describe what Simple Cysts can show on radiographs?
- Hemorrhage of cyst
- -> pain and calcification
- -> bizarre radiographic shadows
What 3 qualities differentiates cysts from tumors?
Smooth contours
Avascular
Fluid signals
What 3 qualities differentiate cysts from tumors?
Smooth contours
Avascular
Fluid signals
