Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex.
Ambulatory blood pressure monitoring
Glomerular filtration rate
Hypertension
Renal angiomyolipoma
Tuberous sclerosis complex
Journal
European journal of pediatrics
ISSN: 1432-1076
Titre abrégé: Eur J Pediatr
Pays: Germany
ID NLM: 7603873
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
received:
13
09
2021
accepted:
26
11
2021
revised:
25
11
2021
pubmed:
7
1
2022
medline:
1
4
2022
entrez:
6
1
2022
Statut:
ppublish
Résumé
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 GFR 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. • 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. • 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.
Identifiants
pubmed: 34988664
doi: 10.1007/s00431-021-04333-3
pii: 10.1007/s00431-021-04333-3
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1465-1472Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Références
Osborne JP, Fryer A, Webb D (1991) Epidemiology of tuberous sclerosis. Annals of the New York Academy of Sciences 615:125–127. https://doi.org/10.1111/j.1749-6632.1991.tb37754.x
van Slegtenhorst M, de Hoogt R, Hermans C et al (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277:805–808. https://doi.org/10.1126/science.277.5327.805
doi: 10.1126/science.277.5327.805
pubmed: 9242607
Kandt RS, Haines JL, Smith M et al (1992) Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 2:37–41. https://doi.org/10.1038/ng0992-37
doi: 10.1038/ng0992-37
pubmed: 1303246
The European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305–1315. https://doi.org/10.1016/0092-8674(93)90618-Z
doi: 10.1016/0092-8674(93)90618-Z
Henske EP, Józwiak S, Kingswood JC et al (2016) Tuberous sclerosis complex. Nature Reviews Disease Primers 2. https://doi.org/10.1038/nrdp.2016.35
Amin S, Lux A, Calder N et al (2017) Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol 59:612–617. https://doi.org/10.1111/dmcn.13352
doi: 10.1111/dmcn.13352
pubmed: 27935023
Shepherd CW, Gomez MR, Lie JT, Crowson CS (1991) Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 66:792–796. https://doi.org/10.1016/S0025-6196(12)61196-3
doi: 10.1016/S0025-6196(12)61196-3
pubmed: 1861550
Eijkemans MJC, van der Wal W, Reijnders LJ et al (2015) Long-term follow-up assessing renal angiomyolipoma treatment patterns, morbidity, and mortality: an observational study in tuberous sclerosis complex patients in the Netherlands. Am J Kidney Dis 66. https://doi.org/10.1053/j.ajkd.2015.05.016
Bissler JJ, Christopher Kingswood J (2018) Renal manifestation of tuberous sclerosis complex. Am J Med Genet C Semin Med Genet 178:338–347. https://doi.org/10.1002/ajmg.c.31654
doi: 10.1002/ajmg.c.31654
pubmed: 30307110
Robertson FM, Cendron M, Klauber GT, Harris BH (1996) Renal cell carcinoma in association with tuberous sclerosis in children. J Pediatr Surg 31. https://doi.org/10.1016/S0022-3468(96)90689-2
Sauter M, Belousova E, Benedik MP et al (2021) Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet J Rare Dis 16. https://doi.org/10.1186/s13023-021-01917-y
Janssens P, van Hoeve K, de Waele L et al (2018) Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study. Pediatr Nephrol 33:2085–2093. https://doi.org/10.1007/s00467-018-4003-6
doi: 10.1007/s00467-018-4003-6
pubmed: 29987458
Stevens PE (2013) Evaluation and management of chronic kidney disease: synopsis of the kidney disease: improving global outcomes 2012 clinical practice guideline. Ann Intern Med 158. https://doi.org/10.7326/0003-4819-158-11-201306040-00007
Simonsen JA, Thilsing-Hansen K, Høilund-Carlsen PF et al (2020) Glomerular filtration rate: comparison of simultaneous plasma clearance of 99mTc-DTPA and 51Cr-EDTA revisited. Scand J Clin Lab Invest 80. https://doi.org/10.1080/00365513.2020.1759138
Andersen TB, Jødal L, Nielsen NS, Petersen LJ (2019) Comparison of simultaneous plasma clearance of 99mTc-DTPA and 51Cr-EDTA: can one tracer replace the other? Scand J Clin Lab Invest 79. https://doi.org/10.1080/00365513.2019.1658217
Schwartz GJ, Haycock GB, Edelmann CM Jr, Spitzer A (1976) A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 58:259–263
doi: 10.1542/peds.58.2.259
Jaffe M (1886) Ueber den Niederschlag, welchen Pikrinsäure in normalem Harn erzeugt und über eine neue Reaction des Kreatinins. ZPhysiolChem 10:391–400
Helal I, Fick-Brosnahan GM, Reed-Gitomer B, Schrier RW (2012) Glomerular hyperfiltration: definitions, mechanisms and clinical implications. Nat Rev Nephrol 8. https://doi.org/10.1038/nrneph.2012.19
Lurbe E, Agabiti-Rosei E, Cruickshank JK, et al (2016) 2016 European Society of Hypertension guidelines for the management of high blood pressure in children and adolescents. J Hyperten 34. https://doi.org/10.1097/HJH.0000000000001039
Stabouli S, Papakatsika S, Kotronis G et al (2015) Arterial stiffness and SBP variability in children and adolescents. J Hyperten 33. https://doi.org/10.1097/HJH.0000000000000369
Kotsis V, Stabouli S, Pitiriga V et al (2006) Ambulatory blood pressure monitoring and target organ damage: effects of age and sex. Blood Press Monit 11. https://doi.org/10.1097/01.mbp.0000189785.59994.20
Kollios K, Nika T, Kotsis V et al (2021) Arterial stiffness in children and adolescents with masked and sustained hypertension. J Hum Hyperten 35. https://doi.org/10.1038/s41371-020-0318-4
Flynn JT, Daniels SR, Hayman LL et al (2014) Update: Ambulatory Blood Pressure Monitoring in Children and Adolescents. Hypertension 63. https://doi.org/10.1161/HYP.0000000000000007
Wassertheurer S, Kropf J, Weber T et al (2010) A new oscillometric method for pulse wave analysis: comparison with a common tonometric method. J Hum Hyperten 24. https://doi.org/10.1038/jhh.2010.27
Shiraishi M, Murakami T, Higashi K (2020) The accuracy of central blood pressure obtained by oscillometric noninvasive method using Mobil-O-Graph in children and adolescents. J Hyperten 38. https://doi.org/10.1097/HJH.0000000000002360
Elmenhorst J, Hulpke-Wette M, Barta C et al (2015) Percentiles for central blood pressure and pulse wave velocity in children and adolescents recorded with an oscillometric device. Atherosclerosis 238. https://doi.org/10.1016/j.atherosclerosis.2014.11.005
Vekeman F, Magestro M, Karner P et al (2015) Kidney involvement in tuberous sclerosis complex: the impact on healthcare resource use and costs. J Med Econ 18. https://doi.org/10.3111/13696998.2015.1075995
Kingswood JC, Nasuti P, Patel K et al (2016) The economic burden of tuberous sclerosis complex in UK patients with renal manifestations: a retrospective cohort study in the clinical practice research datalink (CPRD). J Med Econ 19. https://doi.org/10.1080/13696998.2016.1202254
Kingswood JC, Belousova E, Benedik MP et al (2020) Renal manifestations of tuberous sclerosis complex: key findings from the final analysis of the TOSCA study focussing mainly on renal angiomyolipomas. Front Neurol 11. https://doi.org/10.3389/fneur.2020.00972
Malaga-Dieguez L, Spencer R, Pehrson LJ et al (2017) Early manifestations of renal disease in patients with tuberous sclerosis complex. Int J Nephrol Renov Dis 10. https://doi.org/10.2147/IJNRD.S123638
Pan X, Yang C, Ma S et al (2021) A case of TSC2‐PKD1 contiguous deletion syndrome: clinical features and effective treatment for epilepsy. Int J Dev Neurosci. https://doi.org/10.1002/jdn.10088
Brook-Carter PT, Peral B, Ward CJ et al (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome. Nat Genet 8:328–332. https://doi.org/10.1038/ng1294-328
doi: 10.1038/ng1294-328
pubmed: 7894481
Sampson JR, Maheshwar MM, Aspinwall R et al (1997) Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 61. https://doi.org/10.1086/514888
Sperandio M, Weber L, Jauch A et al (2000) Cutaneous white spots in a child with polycystic kidneys: a clue to TSC2/PKD1 gene mutation. Nephrol Dial Transplant 15. https://doi.org/10.1093/ndt/15.6.909
Laass MW, Spiegel M, Jauch A et al (2004) Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Pediatr Nephrol 19. https://doi.org/10.1007/s00467-004-1442-z
el Aoud S, Frikha F, Snoussi M et al (2017) Tuberous sclerosis complex (Bourneville-Pringle disease) in a 25-year-old female with bilateral renal angiomyolipoma and secondary hypertension. Saudi J Kidney Dis Transpl 28. https://doi.org/10.4103/1319-2442.206461
Sarafidis PA, Bikos A, Loutradis C et al (2017) Diagnosis of tuberous sclerosis complex in a patient referred for uncontrolled hypertension and renal dysfunction: a case highlighting the importance of proper diagnostic work-up of hypertensive patients. J Hypertens 35:2109–2114. https://doi.org/10.1097/HJH.0000000000001423
doi: 10.1097/HJH.0000000000001423
pubmed: 28594706
Emad Momtaz H (2010) Tuberous sclerosis with hypertension and abdominal pain in a child. Iran J Kidney Dis 4:253–258
Wong H, Hadi M, Khoury T et al (2006) Management of severe hypertension in a child with tuberous sclerosis-related major vascular abnormalities. J Hyperten 24. https://doi.org/10.1097/01.hjh.0000209994.33680.11
Nass RD, Hampel KG, Elger CE, Surges R (2019) Blood pressure in seizures and epilepsy. Front Neurol 10. https://doi.org/10.3389/fneur.2019.00501
Kingswood JC, Bissler JJ, Budde K et al (2016) Review of the tuberous sclerosis renal guidelines from the 2012 Consensus Conference: current data and future study. Nephron 134:51–58. https://doi.org/10.1159/000448293
doi: 10.1159/000448293
pubmed: 27504842
Warncke JC, Brodie KE, Grantham EC et al (2017) Pediatric renal angiomyolipomas in tuberous sclerosis complex. J Urol 197:500–506. https://doi.org/10.1016/j.juro.2016.09.082
doi: 10.1016/j.juro.2016.09.082
pubmed: 27678300
Bissler JJ, Kingswood JC, Radzikowska E et al (2013) Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. The Lancet 381:817–824. https://doi.org/10.1016/S0140-6736(12)61767-X
doi: 10.1016/S0140-6736(12)61767-X