Cystic Diseases Of The Kidney Flashcards
(30 cards)
What is the inheritance pattern in adult polycystic kidney disease?
Autosomal dominant
What are the morphological findings in ADPKD?
Large multicystic kidneys, liver cysts, berry aneurysms.
What are the clinical features of ADPKD and what is the outcome of the disease?
Hematuria, flank pain, UTI, renal stones, HTN.
Chronic renal failure beginning at 40-60 y/0
What is the inheritance pattern of infant/ childhood polycystic kidney disease?
Autosomal recessive
What is the morphology of ARPKD?
Enlarged kidneys, cystic at birth.
What are the clinical features of ARPKD and outcome?
Hepatic fibrosis
Variable, death in infancy and childhood
What is the inheritance pattern of medullary sponge kidney?
No pattern.
What is the morphology and clinical features of medullary sponge kidney?
- medullary cysts on excretory urography
- Hematuria, UTI, recurrent renal stones
Outcome is benign
What is the inheritance of familial juvenile nephronopthisis?
Autosomal recessive
What is the morphology and clinical features of familial juvenile nephronopthisis?
- Corticomedullary cysts, shrunken kidneys.
- Salt wasting, polyuria, growth retardation.
Outcome-> progressive renal failure in childhood
What is the inheritance pattern in adult-onset nephronophthisis?
Autosomal Dominant
What is the morphology and clinical features of adult-onset nephronopthisis?
- Corticomedullary cysts, shrunken kidneys
- Salt wasting, polyuria
Outcome-> chronic renal failure-adult onset
What is the morphology and clinical features of simple cysts?
- single or several cysts with normal sized kidneys
- microscopic Hematuria
Benign outcome
What is the morphology and clinical features of acquired renal cystic disease?
- Cystic degeneration in end-stage kidney
- Hemorrhage, erythrocytosis, neoplasia
Dependent on dialysis
What is the morphology and clinical features of multicystic renal dysplasia?
- Irregualr kidneys with cysts of various sizes
- Assocaited with other renal anomalies
Outcome-> renal failure if bilateral, surgically curable if unilateral.
What chromosome does the PKD1 gene reside on and what percentage of overall cases of ADPKD does it make up?
- Chromosome 16
- 85% of all cases
What chromosome does the PKD2 gene reside on and what percentage of overall cases of ADPKS does it make up?
- Chromosome 4
- 15%
Which defective gene mutation in ADPKD has a better outcome?
PKD2, prolongs onset of end stage renal failure
What are the assocaited extra-renal manifestations in ADPKD?
Hepatic cysts, berry aneurysm, mitral valve prolapse, diverticula disease of the colon.
In most cases of ARPKD, what is the gene that is defective and what chromosome does it reside on?
PKHD on chromosome 6, which encodes the large novel protein fibrocystin.
What are the characteristic findings in ARPKD?
Slightly enlarged kidneys exhibiting numerous small liner/radial arrayed cysts derived from dilated collecting ducts.
What are the most common subtypes of ARPKD?
Perinatal (most common): 90% collecting ducts are cystic, minimal hepatic fibrosis, survive only a few hours.
Neonatal: 60% collecting ducts are cystic, mild hepatic fibrosis, generally live a few months after birth
What group of diseases is considered the most common genetic cause of ESRD in adolescents and adults?
Nephronopthisis
What are the two types of common real cysts?
1) Aquired (dialysis-assocaited) cysts
2) simple renal cysts
