Polycystic kidney disease

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Polycystic kidney disease

Consist of two variants

1. autosomal dominant polycystic kidney disease (ADPKD )

2. autosomal recessive polycystic kidney disease ( ARPKD )

Autosomal polycystic kidney disease (ADPKD)

Genetically seen defects on –

1. PKD 1 gene ( defect on chromosome 16 ) .

2. PKD 2 gene ( defect on chromosome 4 ) .

Note – usually seen in individual between 30-45 years old.

Clinical picture

1. Flank pain

Note – regular episodes of flank pain lead this patients to opioids addiction .

2. There is a increase incidence in urinary tract infections ( UTI )

Note – incidence of pyelonephritis increases – presence of positive culture with positive

WBC count.

3. Incidence of kidney stone increases – Urate stones

Note – most common stone is oxalate stones but in this cases it is urate stone that is seen .

4. Usually renal cell carcinoma ( RCC ) is rare in this condition but if it shows than it is very

aggressive i.e the multicentric variant is seen .

5. Decrease in GFR which leads to increase renin , hence cases of hypertension is seen .

Note – the reason for headache in this patients .

The reasons why the patients come to the doctor are for the following extra- renal reasons –

1. GIT – colonic diverticulosis (due to blockage of the mouth of this diverticula by feacolite

causes diverticulitis .

2. CVS- mitral valve prolapse

3. CNS- Arteriovenous malformation (berry aneurysm).

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Polycystic kidney disease Consist of two variants 1. autosomal dominant polycystic kidney disease (ADPKD ) 2. autosomal recessive polycystic kidney disease ( ARPKD ) Autosomal polycystic kidney disease (ADPKD) Genetically seen defects on – 1. PKD 1 gene ( defect on chromosome 16 ) . 2. PKD 2 gene ( defect on chromosome 4 ) . Note – usually seen in individual between 30-45 years old. Clinical picture 1. Flank pain Note – regular episodes of flank pain lead this patients to opioids addiction . 2. There is a increase incidence in urinary tract infections ( UTI ) Note – incidence of pyelo ...
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