Polycystic Kidney Disease Lecture Powerpoint Flashcards
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Nongenetic causes of renal cyst formation (1)
-Acquired with end stage renal disease after several years of dialysis typically
Genetic causes of renal cyst formation (5)
- Autosomal dominant PKD
- Medullary sponge kidney
- autosomal recessive PKD
- Nephronophithisis
- Medullary cystic kidney disease
Mechanism of polycystic kidney disease
-malformation of proteins important to the structure of the primary cilium (polycystin 1 and 2)
3 criteria for a simple kidney cyst to be evaluated on ultrasonography that if present allow it to be differentiated from a carcinoma or abscess
- mass is round and sharply demarcated with smooth walls
- no echoes in mass
- good transmission of cyst and enhanced transmission byond the cyst (fluid filled)
Imaging study of choice for renal cyst if ultrasonography proves inconclusive and one good alternative
CT scan
MRI
Bosniak classification of renal cysts
1 - not malignant 2 - not malignant 2F 3 - 50/50 4 - always malignant
Most common renal masses that typically produce no signs or symptoms
Simple renal cysts
Risks associated with simple cysts (3)
- infection
- hypertension
- hemorrhage
A negative side effect in 50% of patients on dialysis for >3 years is development of…
PKD
Acquired PKD clinicla features (3)
- flank pain
- hematuria
- predispsoal to nephrolithiasis
Autosomal dominant PKD characteristics (4)
- most common
- ultimately fatal
- no specific therapy
- cysts often show up in other areas as well
Autosomal dominant PKD affected genes, what chromosomes do they occupy?
-PKD1 (faster progressoin) and 2 (less common and slower), 16 and 4 respectively
Those with audosomal dominant PKD most often die of what cause?
-cardiac diseases
Diagnosis of a renal cyst below the age of 18 is strongly suggestive of…
…Autosomal dominant PKD
Test of choice to detect autosomal dominant PKD
Ultrasound
Absence of cysts on ultrasound cannot exclude possibility of subsequent expression of ____phenotype
Autosomal dominant PKD
2 major goals of treatment of Autosomal dominant PKD
- control hypertension
- control diabetes
Autosomal dominant PKD prognosis
-Variable and hard to predict, about 50% reach age 73 without being at end stage renal failure
Autosomal recessive pkd presents at ____
infancy
Complications of infants with autosomal recessive PKD (3, which one kills?)
- portal hypertension
- pulmonary hypoplasia (death)
- hepatomegaly
___% of children with autosomal recessive pkd progress to end stage renal disease in the first decade of life
50
Autosomal recessive pkd treatment and prognsosi
- none, sometimes transplant
- 15 year survival rate about 67%
Medullary sponge kidney is malformation of the ___ and ____ opposed to in pkd where the ____ is affected
collecting ducts, renal pyramids. cortex
Medullary sponge kidney diagnostic study
Intravenous pyelogram
Medullary sponge kidney treatment and prognosis
- preventing recurrent infections and stones
- very good, rarely leads to end stage renal disaese
Nephronophthisis definition
A disease characterized by fibrosis impairing kidney function in younger patients often times stunting growth and resulting in fluid filled cysts in the cortocomedullary region of kidneys
Most common genetic cause of ESRD in children and young adults is…
….Nephronophthisis
Medullary cystic kidney disease definition and 3 symptoms
A disease characterized by fibrosis impairing function of kidneys in adult age patients that ultimately leads to kidney failure, often times lacks cyst development but has skin darkening, hiccups, and nocturia
Medullary cystic kidney disease specific gravity will be….
….very low
Medullary cystic kidney disease treaetment
no cure, control symptoms
