Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency

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• 作者：V. Donadio^a ; ^{vincenzo.donadio@unibo.it" class="auth_mail" title="E-mail the corresponding author} ; R. Liguori^a ; ^b ; A. Incensi^a ; G. Chiaro^b ; A. Bartoletti-Stella^b ; S. Capellari^a ; ^b ; P. Cortelli^a ; ^b
• 关键词：DβH ; dopamine-β-hydroxylase ; PAN ; peripheral autonomic neuropathy ; OH ; orthostatic hypotension ; HNPP ; hereditary neuropathy with liability to pressure palsies ; MSNA ; muscle sympathetic nerve activity ; SSNA ; skin sympathetic nerve activity ; PGP 9.5 ; gene product 9.5 ; ColIV ; collagen IV ; VIP ; vasoactive intestinal peptide ; ENFs ; epidermal nerve fiber density ; APM ; arrector pilorum muscle ; SG ; sweat gland ; SBP ; systolic blood pressure ; DBP ; diastolic blood pressure ; BP ; blood pressure
• 刊名：Autonomic Neuroscience: Basic and Clinical
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：197
• 期：Complete
• 页码：56-59
• 全文大小：676 K

文摘

Skin biopsy and microneurography are autonomic tests directly evaluating adrenergic and cholinergic sympathetic fibers to identify selective deficiency of a specific peripheral sympathetic subdivision. We describe a patient with tomacular neuropathy due to a deletion of the PMP22 gene who complained of chronic orthostatic hypotension due to a dopamine-β-hydroxylase deficiency confirmed by genetic analysis demonstrating two novel mutations in the DβH gene. To further characterize autonomic dysfunctions the proband underwent skin biopsy and microneurography. These tests disclosed a selective peripheral adrenergic dysfunction demonstrating the possibility to ascertain DβH deficiency. In conclusion, skin biopsy and microneurography may help to increase the diagnosis of this peculiar disorder particularly when routine autonomic nervous system tests show uncertain results.