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POLYCYSTIC KIDNEY DISEASE IN A PATIENT WITH ACHONDROPLASIA: CASE REPORT
Abstract
SUMMARY
Autosomal dominant polycystic kidney disease is a multisystem disease involving many
organs. An association with other diseases such as tuberous sclerosis, von Hippel-Lindau
disease and Marfan syndrome have been previously described. We describe a 35 year
old female with achondroplasia who developed polycystic kidney disease involving both
kidneys and progressing to end-stage renal disease. To the best of our knowledge this
is the first such case described in the literature. We also delve, briefly, into the possibility
of the genes and chromosomes involved in Marfan syndrome, polycystic kidney disease,
tuberous sclerosis and achondroplasia playing a role in the co-occurrence of these
entities.
Autosomal dominant polycystic kidney disease is a multisystem disease involving many
organs. An association with other diseases such as tuberous sclerosis, von Hippel-Lindau
disease and Marfan syndrome have been previously described. We describe a 35 year
old female with achondroplasia who developed polycystic kidney disease involving both
kidneys and progressing to end-stage renal disease. To the best of our knowledge this
is the first such case described in the literature. We also delve, briefly, into the possibility
of the genes and chromosomes involved in Marfan syndrome, polycystic kidney disease,
tuberous sclerosis and achondroplasia playing a role in the co-occurrence of these
entities.
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