Consequences of delay in screening, monitoring, and treatment of angiomyolipoma and tuberous sclerosis

A case report

Research output: Contribution to journalArticle

Abstract

Background: Tuberous sclerosis complex (TSC) is a multisystem disorder that results in tumor growth in various organs. TSC can affect the kidneys in the form of renal angiomyolipomas and cysts that can lead to chronic kidney disease. Case presentation: A 38-year-old woman was referred to Kennedy Krieger Institute for comprehensive TSC management. Before referral, the patient had gone most of her life without a definite diagnosis of TSC despite visuallyprominent signs such as forehead plaques, facial angiofibromas, and ungual fibromas. Eventually, complications of the disease led to the patient requiring hemodialysis at age 34 and a complete bilateral nephrectomy at age 36. However, the patient was not diagnosed with TSC until an evaluation at the National Institutes of Health at age 37. After becoming a patient at our clinic, a multidisciplinary approach was taken to provide comprehensive care by including various disciplines such as nephrology, neurology, pulmonology, ophthalmology, dentistry, dermatology, and cardiology. Discussion and conclusion: TSC consensus recommendations aid in diagnosis, monitoring, and treatment of TSC and its associated manifestations, including those involving the kidneys. Our case underscores the importance of early identification of TSC to prevent future complications and promotes use of a multidisciplinary team to provide comprehensive care.

Original languageEnglish (US)
Pages (from-to)71-75
Number of pages5
JournalClinical Nephrology
Volume90
Issue number1
DOIs
StatePublished - Jul 1 2018

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Angiomyolipoma
Tuberous Sclerosis
Therapeutics
Kidney
Angiofibroma
Pulmonary Medicine
Forehead
Fibroma
Nephrology
National Institutes of Health (U.S.)
Ophthalmology
Neurology
Nails
Dermatology
Dentistry
Cardiology
Nephrectomy
Chronic Renal Insufficiency
Renal Dialysis
Cysts

All Science Journal Classification (ASJC) codes

  • Nephrology

Cite this

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abstract = "Background: Tuberous sclerosis complex (TSC) is a multisystem disorder that results in tumor growth in various organs. TSC can affect the kidneys in the form of renal angiomyolipomas and cysts that can lead to chronic kidney disease. Case presentation: A 38-year-old woman was referred to Kennedy Krieger Institute for comprehensive TSC management. Before referral, the patient had gone most of her life without a definite diagnosis of TSC despite visuallyprominent signs such as forehead plaques, facial angiofibromas, and ungual fibromas. Eventually, complications of the disease led to the patient requiring hemodialysis at age 34 and a complete bilateral nephrectomy at age 36. However, the patient was not diagnosed with TSC until an evaluation at the National Institutes of Health at age 37. After becoming a patient at our clinic, a multidisciplinary approach was taken to provide comprehensive care by including various disciplines such as nephrology, neurology, pulmonology, ophthalmology, dentistry, dermatology, and cardiology. Discussion and conclusion: TSC consensus recommendations aid in diagnosis, monitoring, and treatment of TSC and its associated manifestations, including those involving the kidneys. Our case underscores the importance of early identification of TSC to prevent future complications and promotes use of a multidisciplinary team to provide comprehensive care.",
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