Inherited Kidney Diseases

There are a variety of kidney diseases, ranging from relatively common to rare disorders and from benign disorders to those with a high morbidity and mortality. Presentation may also vary, e.g. renal mass, loin pain, failure to thrive, short stature, hypertension or renal dysfunction. The main groups of inherited kidney diseases are:

• Cystic kidney diseases:
  • Autosomal dominant polycystic kidney disease:
    • Common inherited disease with a prevalence of about 1 in 1000
    • Liver cysts are the commonest extra-renal manifestation
    • Presentation: may be asymptomatic or present with loin pain, gross haematuria or associated urinary tract infection.
    • Diagnosis: ultrasound demonstration of multiple bilateral renal cysts; kidneys are often enlarged.
    • Management: ensure a high fluid intake: monitoring and control of blood pressure and renal function. Renal cyst decompression is only used in very selected cases.
    • Complications: renal stones occur in approximately 20% of patients; hypertension; progression to end-stage renal failure is slow, and does not occur in all patients.
  • Autosomal recessive polycystic kidney disease
  • Nephronophthisis: juvenile and adult form
  • Medullary sponge kidney.
  • Associated with multiple malformation syndrome, such as phacomatoses (autosomal dominant), tuberous sclerosis, Lowe syndrome, Von Hippel-Lindau syndrome, or other rare syndromes.
• Alport's syndrome and variants: Alport's syndrome is an important but rare cause of haematuria: deafness and eye abnormalities are common in men with Alport's syndrome.
• Bartter's syndrome
• Inherited metabolic diseases with renal involvement:
  • With glomerular involvement (such as diabetes mellitus, genetic amyloidosis, Fabry's disease)
  • With non-glomerular involvement (such as cystinosis, primary hyperoxaluria)
• Other inherited diseases:
  • With glomerular involvement (such as congenital nephrotic syndrome, nail-patella syndrome)
  • With non-glomerular involvement (such as nephronophthisis)
• Primary immune glomerulonephritis, occasionally familial (such as IgA nephropathy).
• Various renal diseases with genetic influence (such as reflux nephropathy, haemolytic-uraemic syndrome)

• Assessment of renal function
• Imaging of the urinary tract
• Full evaluation for associated defects

• The management will depend on the underlying disorder, degree of renal dysfunction and associated defects.
• Genetic counselling