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Cystic Kidney Diseases: Which One should be Looked for?

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Dr Manish Malik, New Delhi    29 November 2019

  • Nephrolithiasis is the leading genetic cause of ESRD in children, adolescents and young adults (first three decades).
  • Extra-renal manifestations in 15-20% of cases. Careful clinical evaluation of prime importance.
  • Genetic testing alone is not always helpful for clinicians and their patients in case of cystic kidney diseases, look for; Clinically relevant; Not ultra-rare; Impact morbidity and mortality; Early intervention may influence outcome.
  • Marker of serious extra-renal manifestations. Medullary cystic kidney disease is an autosomal dominant disease, also known as autosomal dominant tubulointerstitial kidney disease (ADTKD).

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