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 (links to separate article)
  • Autosomal recessive polycystic kidney disease (links to separate article)
  • Nephronophthisis: juvenile and adult form
  • Medullary sponge kidney (links to separate article)
  • Associated with multiple malformation syndrome, e.g. tuberous sclerosis, Lowe's syndrome, Von Hippel-Lindau disease and other rare syndromes.
• Alport's syndrome and variants (links to separate article)
• Bartter's syndrome
• Inherited metabolic diseases with renal involvement:
  • With glomerular involvement, e.g. diabetes mellitus, genetic amyloidosis, Anderson-Fabry disease
  • With non-glomerular involvement, e.g. cystinosis (and other causes of inherited renal Fanconi syndrome), cystinuria (autosomal recessive disorder with the formation of cystine stones in the kidneys, ureter and bladder), hyperoxaluria
• Other inherited diseases, e.g. congenital nephrotic syndrome, nail-patella syndrome (autosomal dominant - results in small, poorly developed nails and kneecaps, and may be associated with proteinuria, haematuria and end-stage renal failure)
• Primary immune glomerulonephritis (occasionally familial, e.g. IgA nephropathy)
• Various renal diseases with genetic influence, e.g. reflux nephropathy, haemolytic uraemic syndrome

Assessment

• Prenatal diagnosis may be possible
• Full clinical assessment, including family history and assessment of family members where appropriate
• Assessment of renal function
• Imaging of the urinary tract, e.g. ultrasound, CT, MRI scanning
• Renal biopsy
• Full evaluation for associated defects

Management

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

Internet and further reading

• Renal involvement in genetic disease. Oxford Textbook of Medicine 4th edition; Section 20.32. Eds Warrell DA et al. OUP 2003

Acknowledgements