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Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis, multiple angiomyolipomas and periventricular calcifications of the central nervous system (Sampson et al. 1997). This condition usually presents with angiomyplipomas and cystic disease which is associated with TSC2/PKD1 gene. The tuberous sclerosis complex (TSC) was first described by Friedrich Daniel von Recklinghausen in 1862 (von Recklinghausen 1862).

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Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis (PKDTS)

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  • 发表日期：

    2025年

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  • Olaniyan T. Olugbemi,
  • Ayobami Dare,
  • Adetunji O. Charles,
  • Okotie E. Gloria

摘要

Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis, multiple angiomyolipomas and periventricular calcifications of the central nervous system (Sampson et al. 1997). This condition usually presents with angiomyplipomas and cystic disease which is associated with TSC2/PKD1 gene. The tuberous sclerosis complex (TSC) was first described by Friedrich Daniel von Recklinghausen in 1862 (von Recklinghausen 1862).