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Nephronophthisis Bardet-Biedl Syndrome
What is a Cyst
Typically a fluid filled cavity
Inheritance Patterns
Do you need a bit of revision!
Normal
Affected
Jul 7 2007/ Slide 7
ASCO
ADPKD
Renal cysts increase in size and number with age
Enlarged kidneys
Cysts may also occur in liver, pancreas and rarely other sites
The PKD Charity 2007 Jul 7 2007/ Slide 11
Positive Family History 2 cysts unilateral or bilateral 4 cysts in total 8 cysts in total
The PKD Charity 2007
Negative Family History 5 cysts both sides 5 cysts both sides 8 cysts both sides
Jul 7 2007/ Slide 12
Clinical features
Kidney pain Hypertension
Clinical features
Haematuria (blood in urine) Cyst rupture Urinary tract infection Nephrolithiasis (kidney stones) Renal failure
100% Common 60% (pre ESRF) 80% (post ESRF) 30% 50% 60% Common 30% 45% by age 60
Jul 7 2007/ Slide 19
4-10%
Conclusions
Survival has improved by better treatment Hypertension affects prognosis and early diagnosis and treatment of hypertension may further improve survival Not all patients progress to ESRF even if have renal impairment Genotype affects prognosis but is not yet widely available
The PKD Charity 2007 Jul 7 2007/ Slide 26
Why are only a small number of Kidney Filter units (Nephrons) affected?
Germline
2nd hit
Cyst Cell
PKD Marker1
Genotype: 1, 2
Genotype: 1, 2
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2002