Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
24 Cards in this Set
- Front
- Back
|
In the pediatric or the adult patient do inherited kidney diseases play a bigger role?
|
Pediatric
|
|
|
What is congenital nephrotic syndrome?
|
Protein spilling in the urine during the first 3 months of life
Usually caused by a mutation in nephrin |
|
|
What mutation occurs in congenital nephrotic syndrome? What effect does this have on glomerular architecture?
|
Mutations in NPHS1, NPHS2, WT1, LAMB2
Podocytes don't keep together; spilling of proteins through the slit membrane |
|
|
What is on the differential for congenital nephrotic syndrome?
|
Infections: syphilis, toxo
Mercury toxicity Nail-patella |
|
|
What is the clinical presentation of congenital nephrotic syndrome?
|
Edema
Albuminuria Hypoalbuminuria Hypercholesterolemia Increased infection risk (lowing Igs) Tombosis risk |
|
|
What are the different types of Alport's syndrome?
|
Autosomal dominant
Autosomal recessive X-linked |
|
|
What gene is mutated in Alport's syndrome?
|
Collagen type IV (A3, A4, A5) mutations
|
|
|
Where is collagen IV found?
|
Renal GBM
Cochlea Lens of the eye |
|
|
What is the presentation of X-linked alports?
|
Hematuria
Proteinuria X-linked SN deafness |
|
|
What is the presentation of AD, AR alports?
|
Variable presentation of:
Hematuria Proteinuria X-linked SN deafness |
|
|
What symptoms do female carriers of x-linke Alport's usually have/
|
Benign hematuria
|
|
|
What causes female carriers of Alports to have kidney failure in old age?
|
Lyonization: the inactivation of an X chromsome
If the "good" X chromosome is silenced,you've only got the bad, leading to alport's |
|
|
What is the most common inherited kidney disease?
|
ADPKD
|
|
|
Mutations to these structures in the cell cause ADPKD and ARPKD:
|
Protein localization to the cilia:
Polycystin 1 in dominant Polycystin 2: recessive |
|
|
What cellular pathways are disrupted during ADPKD?
|
The PC1, PC2 mechanoreceptor is dysfunctional:
-mTOR is upregulated -cAMP is upregulated -Ca influx downregulated Cilia problems |
|
|
What is the typical presentation of ADPKD?
|
Largely asymptomatic for the majority of the disease...big declines at the end of it all.
|
|
|
If you've got ADPKD, where else can you get cysts?
|
Liver
Ovaries Epididymis |
|
|
What's the clinical presentation of someone with ADPKD?
|
Flank pain
Hematuria Stones Infection HTN Concentrating defect ESKD |
|
|
What are poor prognostic indicators for ADPKD?
|
More advanced disease
FH of early kidney failure Proteinuria HTN Gross hematuria Male |
|
|
What are some extra-renal issues that may be caused in ADPKD?
|
Cerebral aneurysms
Liver cysts |
|
|
In ADPKD, where do the cysts show up? How early can they show up?
|
Anywhere on the nephron
|
|
|
ARPKD presents in what age range of patients?
|
Kids
|
|
|
How can a child with ARPKD present?
|
Hepatic fibrosis
Cholangitis Think about how PKD causes problems with the liver quite a bit; both places where it can present are either liver or connected to the liver. |
|
|
What is cystinosis?
|
AR disease of the kidney
Lysosomal transporter disease Presetns as Fanconi's Systemic problems. |
