Is Alacrima So Prevalent in Patients With Early-Onset Achalasia?

Kim, Hee Man

doi:10.5056/jnm.2011.17.3.330

Cited by 2 publications

(3 citation statements)

References 6 publications

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“…Some case reports have shown that decreased tear production was either present from birth or was noted within the first year of life 5,9. In addition, various cases and reports have studied the prevalence of alacrima with relation to achalasia, as achalasia is an extremely rare finding in infancy 37. It was found that alacrima can be as high as 42% in patients with early-onset achalasia 37…”

Section: Alacrimamentioning

confidence: 99%

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<p>Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach</p>

Flokas¹,

Tomani²,

Agdere³

et al. 2019

PHMT

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Allgrove syndrome or triple A (3A) syndrome is a multisystem disorder which classically involves the triad of esophageal achalasia, alacrima, and adrenal insufficiency due to adrenocorticotropin hormone insensitivity. It follows an autosomal recessive pattern of inheritance and is associated with mutations in the AAAS (achalasia–addisonianism–alacrima syndrome) gene. Since its first description in 1978, the knowledge on clinical and genetic characteristics has been expanding; however, the current literature is limited to case reports and case reviews. Early recognition of the syndrome is challenging, given the rarity of the condition and high phenotypic heterogeneity even among members of kin. The coordination of care for these patients requires a multidisciplinary team of specialists, including endocrinologists, neurologists, gastroenterologists, ophthalmologists, developmental specialists, dentists, geneticists, and surgeons. In this review, we aim to summarize the current recommendations for the diagnosis, management, and follow-up of patients with 3A syndrome.

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Section: Alacrimamentioning

confidence: 99%

“…In addition, various cases and reports have studied the prevalence of alacrima with relation to achalasia, as achalasia is an extremely rare finding in infancy 37. It was found that alacrima can be as high as 42% in patients with early-onset achalasia 37…”

Section: Alacrimamentioning

confidence: 99%

<p>Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach</p>

Flokas¹,

Tomani²,

Agdere³

et al. 2019

PHMT

View full text Add to dashboard Cite

show abstract

“…In our article, we chose a broad cut-off value of less than 10 mm/5 min which is used widely, because we wanted to enroll as many patients as possible for our study 6,7. With the narrow cut-off value of less than 5 mm/5 min, the prevalence of alacrima was 26.3% (5 out of 19 enrolled patients), lower than that in our original article.…”

mentioning

confidence: 98%