Hemihypertrophy in a boy with renal polycystic disease: Varied patterns of presentation of renal polycystic disease in his family

Abstract

Hemihypertrophy is a condition that has been described in association with a variety of other malformations and diseases; quite often these have had a renal origin. — It is the purpose of this paper to record and discuss the occurrence of polycystic disease in a family, to note that the disease was manifest as either the “adult” or the “infantile” form, and detail the fact that one member of the family who had infantile type polycystic disease also had hemihypertrophy. —The pattern of inheritance of renal polycystic disease, its age at presentation and the variation in the boy of its manifestation with the passage of time are discussed. The need for caution in offering a prognosis and genetic counselling is stressed.