Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency

Autor: Ido P. Kema, Leo A. H. Monnens, Marcel M. Verbeek, Mirjam E. van Albada, Ton H. van den Meiracker, Tessa Wassenberg, Jorie Versmissen, Erik-Jan Kamsteeg, Michèl A.A.P. Willemsen, Jaap Deinum, Jacques W.M. Lenders, Maartje Pennings, Frans J. van Ittersum, Ron A. Wevers
Přispěvatelé: Medicine and Pharmacy academic/administration, Pediatrics
Rok vydání: 2021
Předmět:
Dopamine
Vascular damage Radboud Institute for Health Sciences [Radboudumc 16]
ORTHOSTATIC HYPOTENSION
Blood Pressure
Review Article
Dopamine beta-Hydroxylase
Gastroenterology
Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
DISEASE
Hypotension
Orthostatic
Orthostatic vital signs
GLOMERULAR-FILTRATION
Dopamine beta hydroxylase deficiency
L-DOPS
Review Articles
PHARMACOLOGY
Genetics (clinical)
0303 health sciences
L‐DOPS
030305 genetics & heredity
neurogenic orthostatic hypotension
Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
Epinephrine
neurotransmitter disorders
Cohort
medicine.drug
medicine.medical_specialty
Anemia
hypomagnesaemia
Renal function
norepinephrine
03 medical and health sciences
Internal medicine
Genetics
medicine
Humans
epinephrine
ANEMIA
Pure autonomic failure
PHYSIOLOGY
030304 developmental biology
business.industry
MUTATIONS
AUTONOMIC FAILURE
medicine.disease
GENE
Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]
Autonomic Nervous System Diseases
Droxidopa
dopamine beta hydroxylase (DBH) deficiency
business
Zdroj: Journal of Inherited Metabolic Disease, 44, 554-565
Wassenberg, T, Deinum, J, van Ittersum, F J, Kamsteeg, E-J, Pennings, M, Verbeek, M M, Wevers, R A, van Albada, M E, Kema, I P, Versmissen, J, van den Meiracker, T, Lenders, J W M, Monnens, L & Willemsen, M A 2021, ' Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency ', Journal of Inherited Metabolic Disease, vol. 44, no. 3, pp. 554-565 . https://doi.org/10.1002/jimd.12321
Journal of Inherited Metabolic Disease, 44, 3, pp. 554-565
Journal of Inherited Metabolic Disease
ISSN: 0141-8955
DOI: 10.1002/jimd.12321
Popis: Contains fulltext : 234019.pdf (Publisher’s version ) (Open Access) Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L-threo-3,4-dihydroxyphenylserine (L-DOPS). We aimed to summarize clinical, biochemical, and genetic data of all world-wide reported patients with DBH-deficiency, and to present detailed new data on long-term follow-up of a relatively large Dutch cohort. We retrospectively describe 10 patients from a Dutch cohort and 15 additional patients from the literature. We identified 25 patients (15 females) from 20 families. Ten patients were diagnosed in the Netherlands. Duration of follow-up of Dutch patients ranged from 1 to 21 years (median 13 years). All patients had severe orthostatic hypotension. Severely decreased or absent (nor)epinephrine, and increased dopamine plasma concentrations were found in 24/25 patients. Impaired kidney function and anemia were present in all Dutch patients, hypomagnesaemia in 5 out of 10. Clinically, all patients responded very well to L-DOPS, with marked reduction of orthostatic complaints. However, orthostatic hypotension remained present, and kidney function, anemia, and hypomagnesaemia only partially improved. Plasma norepinephrine increased and became detectable, while epinephrine remained undetectable in most patients. We confirm the core clinical characteristics of DBH-deficiency and the pathognomonic profile of catecholamines in body fluids. Impaired renal function, anemia, and hypomagnesaemia can be part of the clinical presentation. The subjective response to L-DOPS treatment is excellent and sustained, although the neurotransmitter profile in plasma does not normalize completely. Furthermore, orthostatic hypotension as well as renal function, anemia, and hypomagnesaemia improve only partially.
Databáze: OpenAIRE
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