Polycystic Kidney Disease - JD Flashcards
Defects in what proteins leads to cysts in the kidneys?
- Polycystin-1
- Polycystin-2
What do defects in the primary cilium result in?
Defects in proteins (genetically inherited) → lower cellular calcium and higher vasopression → elevations in cAMP → cAMP causes cystic formation through cell proliferation and fluid secretion
What age group are simple renal cysts most commonly found? What gender?
> 50 y.o. & Men > women
What are the risks associated with simple cysts?
1) Infection: S/S → fever, weight loss, imaging studies are unreliable for Dx
2) HTN: MC independent of the cyst (both simple renal cysts and HTN frequently occur in older individuals)
3) Hemorrhage: bleeding in a simple renal cyst
What are the signs of complex renal cysts?
- calcifications or septa are seen
- irregular shape
- multiple cysts are clustered in a pattern that could mask an underlying carcinoma
What are the clinical features of Acquired PKD?
- Flank pain
- Hematuria due to ruptured cysts
- Tend to form calcium oxalate stones (nephrolithiasis)
What is the most common polycystic kidney disease?
Autosomal-Dominant Polycystic Kidney Disease
What are the S/S of ADPKD?
- Abdominal/flank pain
- Palpable flank mass
- HTN, Hematuria
- ↑ BUN & Serum Cr
- UA → proteinuria & hematuria
What do most patients with ADPKD die from?
Cardiac Causes, chronic renal dz is considered a Coronary Heart Disease risk equivalent
What is the Diagnostic criteria for ADPKD?
1) Positive family history of ADPKD:
<18, any renal cyst is highly suggestive of ADPKD
age 18-29 → at least two renal cysts are required
age 30-59 → at least two cysts in each kidney
age 60+ → at least four cysts in each kidney
What are the Tx goals for ADPKD?
1) Preservation of Renal Function for as long as possible → healthy lifestyle
2) Management of HTN, Hyperlipidemia, Renal Tract infx → ACE/ARB
3) Control of S/S (pain, hematuria, etc.)
What mutation is the cause of Autosomal Recessive Polycystic Kidney Disease (ARPKD)?
Rare mutation in chromosome 6p12 gene
What are the signs of Infantile ARPKD?
- Enlarged echogenic kidneys
- Liver abnormalities (hepatomegaly, portal HTN)
- Pulmonary hypoplasia
- 50% progress to ESRD → No known Tx
What is the cause of Medullary Sponge Kidney (MSK) and what is the clinical presentation?
- glial-cell derived neurotrophic factor (GDNF) mutation
- S/S: formation of both small (microscopic) and large medullary cysts that often diffuse but do not involve cortex
- Hematuria, Kidney stones, UTIs
- No known Tx
What are the characteristics of Nephronophthisis (NPH)?
- Fluid-filled cysts in the corticomedullary region of the kidney
- Fibrosis (inflammation and scarring) → impairs kidney function
- Polyuria/Polydipsia
- Fatigue/Lethargy
- Anemia/Pallor
- Growth retardation
What is the most common genetic cause of ESRD in children and young adults?
Nephronophthisis (NPH)
What is the cause of Medullary Cystic Kidney Disease (MCKD) and what is it characterized by?
- Mutation in the MUCI gene
- Fibrosis and impaired kidney function → kidney failure
- HTN
- Hyperuricemia → can lead to gout
- 40% have medullary cysts
- No known Tx → control symptoms & reduce complications
