Xerostomia in patients with triple A syndrome – a newly recognised finding

Dumić, Miroslav; Stipetić, Marinka Mravak; Kaić, Zvonimir; Ille, Jasenka; Plavšić, Vesna; Batinica, Stipe; Cvitanović, Marijana

doi:10.1007/pl00008361

Cited by 11 publications

(8 citation statements)

References 11 publications

(19 reference statements)

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“…Xerostomia has been described in some case reports as a complaint among patients with 3A syndrome, and confirmatory sialometry has showed decreased salivary secretion 12,64–67. Hyposalivation has also been identified as a cause of dysphagia after correction of achalasia 12.…”

Section: Oral Healthmentioning

confidence: 99%

“…Premature tooth loss has been described. In some cases this was attributed to decreased saliva production and subsequent tooth decay;64,65,69 however, there have been reports describing permanent tooth loss without an underlying gum, salivary, bone, or tooth pathology 59. Furthermore, gastroesophageal reflux, which is prevalent in patients with 3A, has been shown to contribute to tooth erosion 70…”

Section: Oral Healthmentioning

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: Oral Healthmentioning

confidence: 99%

Section: Oral Healthmentioning

confidence: 99%

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

Flokas¹,

Tomani²,

Agdere³

et al. 2019

PHMT

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“…Osteoporosis, xerostomia, accommodative exotropia are examples of these disorders. 3,4 Babu et al 5 have evaluated the ocular manifestations of two affected siblings, and in addition to dry eyes, they have observed diminished pupillary light reflex. They have suggested that this was due to autonomic disregulation that could be seen in patients affected with the syndrome.…”

Section: Discussionmentioning

confidence: 99%

Triple A Sendromlu Bir Olgudaki Göz Problemleri ve Tedavi Yaklaşımı

...

2012

tjo

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Triple-A syndrome (Allgrove syndrome), is a rare autosomal recessive syndrome that is characterized by adrenal insufficiency, alacrimia and achalasia. In this report, we present a case of triple-A syndrome and discuss the ocular manifestations of the diseases along with evaluation of the therapeutic options. In addition to the classic triad of triple-A syndrome, our patient had intermittent exotropia. The patient was receiving oral steroids for adrenal insufficiency and artificial tear drops for eye dryness. Surgery was planned for exotropia. Punctum plug insertion was made simultaneously with bilateral lateral rectus recessions. Postoperative follow-up revealed near and distant horizontal deviation at the interval of ±10 PD. The patient's complaints about eyes regressed significantly as well. Triple-A syndrome is a life threatening and rare disorder that could be fatal when undiagnosed. Punctum plugs are convenient therapy option for the treatment of xerophthalmia encountered in triple-A syndrome. With strabismus surgery including punctum plug insertion, any other surgery can be simultaneously carried out during a single session of general anesthesia. (Turk J Ophthalmol 2012; 42: 492-4) Key Words: Tripple A syndrome, exotropia, dry eye ÖzetTriple A (Allgrove sendromu) nadir rastlanan, otozomal resesif olarak kalıtım gösteren ve adrenal yetmezlik, alakrima ve akalazya ile karakterize bir sendromdur. Bu olgu sunumunda bir Triple A sendromu vakası sunuyor ve hastalığın göz bulguları ile tedavi seçeneklerini tartışıyoruz. Klasik Triple A üçlemesine ek olarak, hastamızda geniş açılı intermitan ekzotropya mevcut idi. Adrenal yetmezlik için oral steroid ve kuru göz için suni gözyaşı kullanmakta idi. Ameliyat ekzotropya nedeni ile planlandı. Punktum plak yerleştirilmesi, iki taraflı dış rektus geriletmesi ile beraber gerçekleştirildi. Postoperatif takipte tatmin edici seviyede füzyonal konverjans gözlendi, yakın ve uzak kayma açıları ±10 prizm dioptri (PD) aralığında idi. Hastanın kuru göz şikayetlerinde önemli derecede azalma oldu. Triple A (Allgrove sendromu) eğer teşhis edilmez ise ölümcül olan nadir rastlanan bir sendromdur. Triple A'da görülen kseroftalmi tedavisinde punktum plakları uygun seçenektir. Ekzotropya ameliyatı ve punktumlara plak yerleştirilmesi cerrahi gereken olgularda genel anestezi altında eşzamanlı olarak yapılabilir. (

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“…The cornea of the eyes was not damaged, probably as a result of residual tear production. Xerostomia (described in 5 patients [12]) was absent.…”

Section: Resultsmentioning

confidence: 99%

Clinical and Novel Molecular Findings in a 6.8-Year-Old Turkish Boy with Triple A Syndrome

Schmittmann-Ohters

Huebner²,

Richter‐Unruh³

et al. 2001

Horm Res Paediatr

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Background: The triple A syndrome is characterized by the main features adrenal insufficiency, achalasia and alacrima. Other organ systems can be involved in a variable manner. Patient: We report clinical and novel molecular findings in a 6.8-year-old Kurdish boy, who presented with relapsing vomiting and failure to thrive. He was diagnosed as having achalasia and primary adrenocortical hypofunction. History and clinical examination showed that the boy was unable to produce tears. In addition, a large number of associated neurological and dermatological features was present in this patient. Thus, the clinical diagnosis of triple A syndrome was made. Results: Initial molecular marker analysis supported linkage to the triple A critical region on chromosome 12q13. Further, a homozygous G → A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function, confirmed the diagnosis. This new mutation was also detected in another family of Kurdish origin. In turned out that both families were related.

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Xerostomia in patients with triple A syndrome – a newly recognised finding

Cited by 11 publications

References 11 publications

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

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

Triple A Sendromlu Bir Olgudaki Göz Problemleri ve Tedavi Yaklaşımı

Clinical and Novel Molecular Findings in a 6.8-Year-Old Turkish Boy with Triple A Syndrome

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