Department of Biochemistry and Physiology, Government Yoga and Naturopathy Medical College and Hospital, Chennai, Tamil Nadu, India.
Department of Endocrinology, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research (SRIHER), Chennai, Tamil Nadu, India.
J Basic Clin Physiol Pharmacol. 2020 Jun 24;31(6):jbcpp-2019-0293. doi: 10.1515/jbcpp-2019-0293.
Objectives AAA (Allgrove) syndrome is a rare genetic disorder characterized by cardinal features of adrenal insufficiency, achalasia, and alacrimia. Case presentation A 21 year girl of known case of Triple A syndrome was referred for the evaluation of autonomic function. She was born full term with developmental delay and abnormal gait. Esophageal manometry study by pneumatic balloon dilatation revealed the presence of achalasia cardia. She had signs of peripheral neuropathy and had episodes of fainting and suspected orthostatic hypotension. Cardiovascular autonomic function and heart rate variability tests were conducted as per Ewing protocol, revealed that the patient had sympathovagal imbalance and sympathetic dominance. Conclusions The presence of autonomic dysfunction adds the 4th A to the Triple A syndrome (Adrenal insufficiency, Achalasia, Alacrimia and Autonomic dysfunction). Noninvasive autonomic function tests are recommended for Triple A syndrome patients to reduce the morbidity associated with autonomic dysfunction.
AAA（Allgrove）综合征是一种罕见的遗传性疾病，其特征为肾上腺皮质功能不全、贲门失弛缓症和无泪症。
一位 21 岁已知 Triple A 综合征的女性患者因自主神经功能评估而转介。她足月出生，有发育迟缓及异常步态。食管测压研究通过气动球囊扩张显示贲门失弛缓症。她有周围神经病的迹象，并伴有晕厥和疑似直立性低血压。按照 Ewing 方案进行心血管自主神经功能和心率变异性测试，结果表明患者存在交感神经-副交感神经失衡和交感神经优势。
自主神经功能障碍的存在将第 4 个“A”（肾上腺皮质功能不全、贲门失弛缓症、无泪症和自主神经功能障碍）加入 Triple A 综合征。建议对 Triple A 综合征患者进行非侵入性自主神经功能测试，以降低与自主神经功能障碍相关的发病率。
