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Autosomal Dominant Polycystic Kidney Disease (Clinical Presentation…
Autosomal Dominant Polycystic Kidney Disease
Multiple cysts develop, gradually and progressively, throughout the kidney eventually resulting in renal enlargement and kidney tissue destruction
Epidemiology
Usually present in adulthood (20-30)
More common in MALES than females
Autosomal dominant inheritance with high penetrance
If one parents affected then 50% chance of transmission
COMMONEST INHERITED KIDNEY DISEASE
If both parents affected - 50% chance being affected, 25% normal, 25% homozygous (die in womb)
Aetiology
Mutations in PKD1 (85%) gene on chromosome 16
Mutations in PKD2 (15%) gene on chromosome 4
Risk Factors
Family history of ADPKD, ESFR or hypertension
Pathophysiology
Disruption of the polycystic pathway results in decreased cytoplasmic Ca, which, in principle cells of the collecting duct, causes defective ciliary signalling and disorientated cell division resulting in cyst formation
Progressive loss of renal function is usually attributed to mechanical compression, apoptosis of healthy tissue and reactive fibrosis
The polycystic complex occurs in cilia that are responsible for sensing flow in the tubule
Rate of renal function decline is dependent on the growth and size of cysts; patients with rapidly growing cysts on MRI lose renal function more rapidly
Clinical Presentation
Nocturia
Bilateral kidney enlargement
Excessive water and salt loss
Renal colic due to clots
Loin or abdominal discomfort as size of kidney increases
Hypertension
Loin pain and/or haematuria from haemorrhage into a cyst, cyst infection or urinary tract stone formation
Renal stones (calculi) - mainly uric acid stones
Symptoms tend to start to present from 20 yrs onwards
Progressive renal failure
Can be clinically silent for many years, so family screening is essential
Extrarenal
Male infertility (rare)
Mitral valve prolapse
Ovarian cysts
Diverticular disease
Pancreatitis
Polycystic liver disease
Subarachnoid haemorrhage associated with berry aneurysm rupture
Differential Diagnosis
Autosomal recessive PKD
Medullary sponge kidney
Acquired and simple cysts of the kidneys
Tuberous sclerosis
Diagnosis
BP may be raised
Ultrasound
Exclude ADPKD if > 40yrs < 2 cysts
Cannot exclude ADPKD by ultrasound if < 30 yrs
For at risk individuals, DIAGNOSTIC IF:
15-39yrs > 3 cysts (uni/bilateral)
40-59yrs > 2 cysts (each kidney)
60 yrs > 4 cysts (each kidney)
Family history of ADPKD, ESFR, hypertension
Genetic testing for PKD1 and PKD2
Personal history
Treatment
Disease progression monitored by serial progression of serum creatinine
Renal replacement therapy for ESRF
Laparoscopic removal of cysts to help with pain/nephrectomy (remove entire kidney)
Children and siblings of patients with the disease should be offered screening by renal ultrasound in their 20s
Treat stones and give analgesia
Counselling and support
Blood pressure control with ACEi
No treatment shown to slow disease progression