Clinical polymorphism of Allgrove (triple-A) syndrome in children: Possibilities for early diagnosis and approaches to therapy

Тозлиян, Е. В.; Sukhorukov, V. S.; Захарова, Е. Ю.; Харабадзе, М. Н.

doi:10.21508/1027-4065-2016-61-1-56-63

Cited by 2 publications

(3 citation statements)

References 8 publications

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“…Чаще всего протекает бессимптомно, однако возможно развитие кератопатии и изъязвления роговицы. Выявляется при тщательном опросе и объективной оценке при помощи пробы Ширмера [18].…”

Section: актуальностьunclassified

“…Встречается приблизительно в 93% случаев и проявляется рвотой, дисфагией, замедленным набором массы тела и хроническим кашлем [14]. Гистологически отмечается выраженное уменьшение количества или отсутствие нейронов ауэрбахова (межмышечного) нервного сплетения пищевода [18].…”

Section: актуальностьunclassified

“…Изолированная глюкокортикостероидная недостаточность проявляется классическими признаками -слабостью, усталостью, болями в животе, у многих больных наблюдаются прогрессирующая гиперпигментация и эпизоды гипогликемии [15]. Были описаны случаи минералокортикоидной недостаточности, однако она встречалась лишь у 10% пациентов [13,18], в связи с чем назначение минералокортикоидов при неукротимой рвоте и потере массы тела, связанных в большинстве случаев именно с ахалазией кардии, будет ошибочным [18].…”

Section: актуальностьunclassified

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Allgrove syndrome: how to suspect the problem? Endocrinologists experience

Volkova

Davidenko

Reshetnikov

et al. 2020

Probl Endokrinol (Mosk)

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Allgrove syndrome (Alacrimia, Achalasia, Adrenal insufficiency, AAAS) is a rare autosomal recessive multisystem disease characterized by chronic adrenal insufficiency, alacrimia and achalasia of the cardia. This disease is often associated with various neurological disorders, amyotrophy, in such cases, it is named 4A and 5A syndrome, but sometimes there is also 2A syndrom. The occurrence of the disease is due to a mutation in the gene AAAS (12q13), which encodes the protein ALADIN. Here is a clinical observation of a patient with Allgrove syndrome. The patient had a typical clinic: alacrimia, achalasia, adrenal insufficiency, convulsive syndrome. However, a neurological disorder, manifested by convulsive syndrome, passed with time. Despite the full clinical picture, the diagnosis was made only after 14 years. Allgrove syndrome was verified through genetic analysis revealed a pathogenic mutation c.43CT gene AAAS. Progression of the severity of alacrimia and need of glucocorticoids over time was noted. We shown the difficulty of diagnosis is due to the lack of awareness of clinicians about the disease, the importance of interdisciplinary interaction, as well as the need for follow-up of such patients.

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Section: актуальностьunclassified

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Allgrove syndrome: how to suspect the problem? Endocrinologists experience

Volkova

Davidenko

Reshetnikov

et al. 2020

Probl Endokrinol (Mosk)

View full text Add to dashboard Cite

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Achalasia of the cardia in Allgrove syndrome in an 8-year-old child

Razumovsky

Mitupov

Alkhasov

et al. 2021

Russian Journal of Pediatric Surgery

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Introduction. The authors present a clinical case of an 8-year-old patient with an extremely rare Allgrove’s syndrome and cardia achalasia. By various authors, in case of this syndrome, achalasia of the cardia is diagnosed in 75% of cases, along with other symptoms. Currently, there are a number of modalities for treating achalasia of the cardia. However, the most popular one is cardiomyotomy by Heller in combination with fundoplication by Dor which recently has been successfully performed with minimally invasive laparoscopic techniques.Clinical case. In present case, the patient had all possible minimally invasive surgical interventions. However, all attempts to apply organ-preserving techniques for treating achalasia of the cardia had failed .Results. Finally, the child had esophageal plastic surgery – coloesophagoplasty with good clinical outcomes.

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Clinical polymorphism of Allgrove (triple-A) syndrome in children: Possibilities for early diagnosis and approaches to therapy

Cited by 2 publications

References 8 publications

Allgrove syndrome: how to suspect the problem? Endocrinologists experience

Allgrove syndrome: how to suspect the problem? Endocrinologists experience

Achalasia of the cardia in Allgrove syndrome in an 8-year-old child

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