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Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex

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Abstract

Renal involvement is very common in tuberous sclerosis complex (TSC) and is characterized by the development of angiomyolipoma and cysts. The aims of the present study were to assess kidney function and clinical features of renal involvement in TSC, including kidney function and blood pressure (BP) levels in children, adolescents and young adults. Non-selected patients with a definite diagnosis of TSC attending the paediatric neurology outpatient department of a tertiary hospital were included in a cross-sectional study. All participants had a renal imaging study within 6 months of ambulatory blood pressure (BP) and glomerular filtration rate (GFR) assessment. Data on demographics, history, genotype, kidney function at diagnosis and last imaging were collected. Twenty patients were enrolled in this study with a median age of 15 years (IQR range 9 to 18). About 23.5% of the participants had ambulatory hypertension. Systolic BP levels correlated significantly with GFRDTPA values despite the absence of hyperfiltration. Patients that developed hypertension and possibly those with angiomyolipoma or cysts had higher GFR levels in childhood and adolescence. All the patients with ambulatory hypertension had angiomyolipoma or cysts on renal imaging studies.

Conclusions: Hypertension may present with increased frequency in young patients with kidney disease associated with TSC. Routine ambulatory BP measurement should be part of the annual clinical assessment in patients with TSC.

What is Known:

• Nearly half of the patients with TSC have a premature decline in their renal function in their fifth decade of life.

• Hypertension and hyperfiltration have been proposed as modifiable factors of progression of renal decline in patients with TSC-related renal disease.

What is New:

• Hypertension is prevalent in youth with tuberous sclerosis complex.

• SBP levels have a positive relation with GFR levels within the normal range of GFRDTPA values.

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Availability of data and material

The datasets generated and/or analysed during the current study are available from the corresponding author on reasonable request.

Abbreviations

ABPM :

Ambulatory blood pressure monitoring

AML :

Angiomyolipoma

BP :

Blood pressure

cSBP :

Central systolic blood pressure

CKD :

Chronic kidney disease

CT :

Computed tomography

DBP :

Diastolic blood pressure

DTPA :

Diethylenetriaminepentaacetic acid

eGFR :

Estimated glomerular filtration rate

EMMS :

Estimated marginal means

GFR :

Glomerular filtration rate

MRI :

Magnetic resonance imaging

mTOR :

Mammalian target of rapamycin

PWV :

Pulse wave velocity

SBP :

Systolic blood pressure

TSC :

Tuberous sclerosis complex

TSC-PKD1 :

Tuberous sclerosis complex-polycystic kidney disease 1

US :

Ultrasound

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Author information

Authors and Affiliations

  1. First Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Hippokratio Hospital, 49 Konstantinoupoleos Str, 54642, Thessaloniki, Greece

    Efthymia Vargiami, Stella Stabouli, Christina Sidira, Maria Kyriazi & Dimitrios Zafeiriou

  2. Department of Radiology, Hippokratio Hospital, Thessaloniki, Greece

    Athanasia Anastasiou

  3. Department of Nuclear Medicine, Hippokratio Hospital, Thessaloniki, Greece

    Athanasios Notopoulos

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  1. Efthymia Vargiami
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Contributions

EV: approved the final version; SS: designed the study, performed the statistical analysis, interpreted the data, drafted the initial manuscript, revised and approved the final version; CS: performed the data collection, interpretation of the data, edited the initial manuscript and approved the final draft; MK: approved the final draft; AA: approved the final draft; AN: edited and approved the final draft; DZ: revised and approved the final version.

Corresponding author

Correspondence to Stella Stabouli.

Ethics declarations

Ethics approval

This study was approved by the Ethics Committee of the Aristotle University of Thessaloniki and was conducted in accordance with the 1964 Helsinki Declaration standards.

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Informed consent was obtained from the parents of all the participants.

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All the authors have read and approved the paper and have met the criteria for authorship as established by the International Committee of Medical Journals Editors.

Conflict of interest

DZ has received honoraria, travel and research grants from Novartis and Pharmaten. EV has received travel grants from Novartis. SS, CS, MK, AA and AN declare that they have no financial interests. DZ has served on advisory boards for Novartis and Pharmaten. EV, SS, CS, MK, AA and AN declare that they have no non-financial interests.

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Communicated by Gregorio Paolo Milani

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Vargiami, E., Stabouli, S., Sidira, C. et al. Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex. Eur J Pediatr 181, 1465–1472 (2022). https://doi.org/10.1007/s00431-021-04333-3

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  • DOI: https://doi.org/10.1007/s00431-021-04333-3

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