Polycystic Kidney Disease Flashcards
What type of PKD is this?
AD - cystic dilation in all parts of the nephron (cysts in the liver, pancreas, and other organs are also common
Symptoms of AD-PKD?
- HTN
- Hematuria
- Proteinuria
- Renal insufficiency
- Palpable Abdominal Mass
- Flank Pain
- Recurrent UTIs
- Polyuria + polydipsia (due to renal concentrating deficit)+ family history
What do most patients with ADPKD die of?
cardiovascular problems
How do you treat ADPKD?
no treatments but there are tx to prevent progression and decr. risk of cardiovascular morbidity
- vasopressin
- incr. fluid intake
- dietary restrictions (decr. protein, Na)
- statins (decr. renal and liver cyst fluid accumulation)
- BP control (ACEi/ARB)
- renal transplantation or dialysis or ESRD
When does AD-PKD present?
What is the morbidity and mortality like?
either at a younger age or in the mid 40s
younger age: faster progression to ESRD; patients tend to die younger (53 yo)
mid 40s: more benign course with later onset of ESRD; patients tend to die later (68yo)
What form of PKD is this?
AR - Cystic dilation of collecting ducts (sponge like appearance)
When does AR-PKD usually present?
What is the morbidity/mortality like?
birth or at a later age or later age
birth:
- die pretty quickly
- renal manifestations (enlarged kidneys, ESRD)
- pulmonary insufficiency (pulmonary hypoplasia and massively enlarged kidneys that limit diaphragmatic excursion)
later age:
- liver cysts; ultimately progresses to cirrhosis -> portal HTN, enlarged spleen, esophageal varices, bacterial cholangitis)
What is the typical presentation of a AR-PKD patient?
presentation varies depending on the age of onset and the predominance of hepatic or renal involvement; common signs are:
- HTN
- Hepatic involvement
- Hyponatremia
- Feeding Difficulties
- Polyuria + polydipsia (due to renal concentrating deficit)
How do you dx patients with PKD? 3
Sonogram
Genetic studies when imaging studies are unclear
MRA for brain aneurysms
What do patients with AR-PKD usually die from?
pulmonary insufficiency or renal failure
How do you treat AR-PKD?
None, but supportive therapies are the same as the adults, but also include:
- management of respiratory distress (mechanical ventilation)
- supplemental nasogastric feedings to obtain adequate caloric intake
Adult trmt: no treatments but there are tx to prevent progression and decr. risk of cardiovascular morbidity
- vasopressin
- incr. fluid intake
- dietary restrictions (decr. protein, Na)
- statins (decr. renal and liver cyst fluid accumulation)
- BP control (ACEi/ARB)
- renal transplantation or dialysis or ESRD
what type of genes are VHL and TSC
tumor suppressor genes
mutation in VHL results in what?
Mutation causes the development of..? 2
common cause of death in VHL patients?
over production of VEGF, PDGF, and TGFa -> development of tumor growth
causes:
- hemanigoblastomas (blood vessel tumors) -
blood vessel tumors) which cause mass lesions in the cerebellum, spinal cord, and retinal capillaries - renal cysts + renal carcinoma ( RCC, clear-cell type)
death: RCC
mutation in TSC results in what?
Mutation causes the development of..? 5
mutations in TSC1, TSC2 (tumor suppressor genes) -> development of hamartomatous lesions in multiple organ systems
-
brain lesions (giant cell astrocytomas, cortical tubers, sub-ependymal nodules)
- clinical manifestations: mental retardation, seizures
-
dermatologic findings
- hypopigmentated macules (ash-leaf spots)
- d’orange (shagreen patches)
- angiofibromas on cheeks
- fibrous plaques on forehead
- cardiac rhabdomyomas (hamartoma of cardiac myocytes -> arrhythmias/CHF
- renal angiolipomas, cysts, carcinoma)
- lymphangiomyomatosis (smooth muscle growth in lungs (cells of renal origin) ->> cystic lung disease; clinically manifests as dyspnea or throax; affects women)
