Inherited Kidney Disease Flashcards
Which mode of inheritance - autosomal dominant or recessive - is most common in polycystic kidney disease?
Autosomal dominant
Polycystic kidney disease is the most common hereditary renal disease. True/False?
True
Where is the mutation in polycystic kidney disease?
PKD1 on chromosome 16 (85%)
PKD2 on chromosome 4 (15%)
PKD1 patients develop ESRF earlier than PKD2 patients. True/False?
True
List clinical features of polycystic kidney disease
Oligouria Chronic pain Haematuria Infection Hypertension
What is the most common extra-renal manifestation of polycystic kidney disease? When does it present?
Hepatic cysts
Present usually 10 years after renal cysts
What manifestation of polycystic kidney disease can occur in the brain?
Intracranial aneurysms
What investigations help diagnose polycystic kidney disease?
Ultrasound shows cysts + renal enlargement
CT/MRI where USS not clear
Outline management of polycystic kidney disease
Control hypertension, hydration
Proteinuria reduction
Tolvaptan
Renal therapy - dialysis, transplant
How does tolvaptan help in polycystic kidney disease?
Reduces cyst volume and progression
Who does autosomal recessive polycystic kidney disease mainly affect? Which gene is involved?
Children
PKHD1 on chromosome 6
Renal involvement is usually bilateral in autosomal recessive polycystic kidney disease. True/False?
True
Where do cysts typically spread in the kidney in autosomal recessive polycystic kidney disease?
Collecting ducts
What is Alport’s syndrome?
Hereditary X-linked nephritis due to defect in type IV collagen matrix, causing malformation
List the clinical features of Alport’s syndrome
Haematuria
Proteinuria (late)
Sensorineural deafness
Anterior lenticonus (eyes)
