Polycystic kidney disease Flashcards
What is Polycystic Kidney Disease?
Polycystic kidney disease is a genetic condition where healthy kidney tissue is replaced by many fluid-filled cysts, leading to renal failure. It can present with enlarged kidneys, which may be palpable on abdominal examination.
What are the two types of Polycystic Kidney Disease?
There are two types:
* Autosomal Dominant Polycystic Kidney Disease (ADPKD) – more common
* Autosomal Recessive Polycystic Kidney Disease (ARPKD) – rarer and more severe
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What are the genes involved in Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
The genes involved are:
* PKD1 gene on chromosome 16 (85% of cases)
* PKD2 gene on chromosome 4 (15% of cases)
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What are the extra-renal manifestations of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Extra-renal manifestations include:
* Cerebral aneurysms
* Cysts in the liver, spleen, pancreas, ovaries, and prostate
* Mitral regurgitation
* Colonic diverticula
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What are the common complications of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Complications include:
* Chronic loin/flank pain
* Hypertension
* Gross haematuria (often after cyst rupture)
* Recurrent urinary tract infections
* Renal stones
* End-stage renal failure (mean age of onset: 50 years)
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What is Autosomal Recessive Polycystic Kidney Disease (ARPKD)?
ARPKD is caused by a mutation in the PKHD1 gene on chromosome 6. It is rarer and more severe than ADPKD and is often detected on antenatal scans due to oligohydramnios (reduced amniotic fluid). It leads to underdeveloped fetal lungs (pulmonary hypoplasia) and respiratory failure shortly after birth.
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What are the features of Autosomal Recessive Polycystic Kidney Disease (ARPKD)?
Features of ARPKD include:
* Oligohydramnios leading to underdeveloped lungs
* Pulmonary hypoplasia and respiratory failure shortly after birth
* Dysmorphic features: underdeveloped ear cartilage, low-set ears, flat nasal bridge
* End-stage renal failure usually occurs before adulthood
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What is the management for Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Management includes:
* Ultrasound and genetic testing for diagnosis
* Tolvaptan (a vasopressin receptor antagonist) to slow cyst development
* Antihypertensives (e.g., ACE inhibitors) for hypertension
* Analgesia for acute pain
* Antibiotics for infections (e.g., UTIs or cyst infections)
* Drainage of symptomatic cysts (aspiration or surgery)
* Dialysis for end-stage renal failure
* Renal transplant for end-stage renal failure
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What other management steps are involved in Polycystic Kidney Disease?
Additional management steps include:
* Genetic counselling
* Avoiding contact sports due to risk of cyst rupture
* Avoiding NSAIDs and anticoagulants
* MR angiography (MRA) for screening cerebral aneurysms
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