Recommendations for the management of renal involvement in the tuberous sclerosis complex

Nefrologia (Engl Ed). 2020 Mar-Apr;40(2):142-151. doi: 10.1016/j.nefro.2019.07.002. Epub 2019 Nov 10.
[Article in English, Spanish]

Abstract

Tuberous sclerosis complex (TSC) is a rare, hereditary, multisystemic disease with a broad phenotypic spectrum. Its management requires the collaboration of multiple specialists. Just as in the paediatric age, the paediatric neurologist takes on special importance; in adulthood, renal involvement is the cause of the greatest morbidity and mortality. There are several recommendations on the general management of patients with TSC but none that focuses on renal involvement. These recommendations respond to the need to provide guidelines to facilitate a better knowledge and diagnostic-therapeutic management of the renal involvement of TSC through a rational use of complementary tests and the correct use of available treatments. Their elaboration has been based on consensus within the hereditary renal diseases working group of the SEN/REDINREN (Spanish Society of Nephrology/Kidney Research Network). It has also counted on the participation of non-nephrologist specialists in TSC in order to expand the vision of the disease.

Keywords: Angiomiolipomas; Angiomyolipomas; Contiguous gene syndrome; Cysts; Enfermedad renal poliquística; Esclerosis tuberosa; Polycystic kidney disease; Proteína mTOR; Quistes; Síndrome del gen contiguo; Tuberous sclerosis; mTOR protein.

Publication types

  • Practice Guideline
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Angiomyolipoma* / diagnostic imaging
  • Angiomyolipoma* / therapy
  • Antineoplastic Agents / therapeutic use
  • Child
  • Everolimus / therapeutic use
  • Humans
  • Hypertension / diagnosis
  • Hypertension / therapy
  • Kidney Diseases* / diagnostic imaging
  • Kidney Diseases* / etiology
  • Kidney Diseases* / therapy
  • Kidney Diseases, Cystic / diagnostic imaging
  • Kidney Diseases, Cystic / therapy
  • Kidney Failure, Chronic / diagnosis
  • Kidney Failure, Chronic / therapy
  • Rare Diseases* / etiology
  • Rare Diseases* / therapy
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / genetics

Substances

  • Antineoplastic Agents
  • Everolimus