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AUTSOMAL RECESSIVE POLYCUSTIC KIDNEY DISEASE (ARPCKD) (Treatment…
AUTSOMAL RECESSIVE POLYCUSTIC KIDNEY DISEASE (ARPCKD)
Differential Diagnosis
ADPKD
Hydronephosis
Renal vein thrombosis
Epidemiolgy
It is characterized by an autosomal recessive condition on chromosome 6
It is a disease of infancy
This is a condition that affects 1 out of 40,000 people
Definition:
when there is an increased formation of cysts in the patients kidney reducing kidney function and ultimately leading ESRF
Treatment
Counseling and support
Supporative therapy to reduce the symptoms (i.e BP , renal stones)
Renal replacement therapy
Cysts can be removed laparoscopically
Clinical Presentation
Appears in infancy with multiple renal cysts and hepatic fibrosis
There is an enlarged polycystic kidney
Variable
30% of the people with the condition will develop ESRF
Aetiology
RF: genetic so must be family history
PKHD on chromosome 6. Happens due to a mutation on the long arm
Diagnosis
Ultrasound
CT/MRI
Antenatally and neonatally
Genetic Testing