The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey

Basit Öğe Kaydı
dc.authorid0000-0002-9558-3856en_US
dc.authorid0000-0002-9809-0977en_US
dc.authorid0000-0001-8730-3968en_US
dc.authorid0000-0003-2438-0602en_US
dc.authorid0000-0002-1557-6040en_US
dc.authorid0000-0001-9776-555Xen_US
dc.authorid0000-0002-3203-741Xen_US
dc.contributor.authorYıldırım, Ruken
dc.contributor.authorÜnal, Edip
dc.contributor.authorÜnal, Aysel Tekmenuray
dc.contributor.authorTaş, Funda Feryal
dc.contributor.authorÖzalkak, Şervan
dc.contributor.authorÇayır, Atilla
dc.contributor.authorÖzbek, Mehmet Nuri
dc.date.accessioned2024-03-19T12:54:05Z
dc.date.available2024-03-19T12:54:05Z
dc.date.issued2023en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractAim: Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrimia. This disorder is caused by mutations in the AAAS gene. The aim of this study is to discuss the clinical, laboratory and molecular genetic analysis results of 12 patients with TAS. Method: We evaluated 12 patients from 8 families. Clinical and laboratory data were retrospectively collected from the medical records of the patients in the database for the period 2015–2020. All exons and exon-intron junctions of the AAAS gene were evaluated by next-generation sequencing method. Detected variants were classified according to American Collage of Medical Genetics criteria. Results: Alacrimia was found in all patients (100%); achalasia was found in 10 patients (83.3%) and adrenal insufficiency was found in 10 patients (83.3%). In addition, hyperreflexia(6/12), learning disability(5/12), hypernasal speech(5/12), muscle weakness(8/12), delayed walking(7/12), delayed speech(6/12), excessive sweating(7/12), optic atrophy(1/12), epilepsy(1/12), palmoplantar hyperkeratosis(5/12), multiple dental caries(9/12), atrophy of the thenar/hypothenar muscles(4/12) and short stature(4/12) were detected. The DHEA-S levels were measured in 10 patients and were found to be low in 8 of them. In all patients, the sodium and potassium levels were found to be normal. AAAS gene sequencing revealed four previously reported c.1066_1067del (p.Leu356fs*8), c.1432 C > T (p.Arg478*), c.688 C > T (p.Arg230*), and c.1368_1372del (p.Gln456fs*38) variants and two novel homozygous c.1250-1 G > A and c.398_399 + 2del variants in the AAAS gene. Conclusion: We detected two novel variants in the AAAS gene. While the classic triad is present in 66.7% of the cases, neurological dysfunction, skin and dental pathologies also occur quite frequently. The earliest and most common finding of TAS is alacrimia. Therefore, adrenal insufficiency should be investigated in all patients with alacrimia and if necessary, genetic analysis should be performed for TAS. In addition, TAS should be followed up with a multidisciplinary approach since it involves many systems.en_US
dc.identifier.citationYıldırım, R., Ünal, E., Ünal, A. T., Taş, F. F., Özalkak, Ş., Çayır, A. ve diğerleri. (2023). The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey. Endocrine, 79(2), 376-383.en_US
dc.identifier.doi10.1007/s12020-022-03206-5
dc.identifier.endpage383en_US
dc.identifier.issn1355-008X
dc.identifier.issue2en_US
dc.identifier.pmid36194344
dc.identifier.scopus2-s2.0-85139432328
dc.identifier.scopusqualityQ2
dc.identifier.startpage376en_US
dc.identifier.urihttps://link.springer.com/article/10.1007/s12020-022-03206-5
dc.identifier.urihttps://hdl.handle.net/11468/13639
dc.identifier.volume79en_US
dc.identifier.wosWOS:000864227200003
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÜnal, Edip
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofEndocrine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAAAS geneen_US
dc.subjectAchalasiaen_US
dc.subjectAdrenal insufficiencyen_US
dc.subjectAlacrimiaen_US
dc.subjectTriple-A syndromeen_US
dc.titleThe clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkeyen_US
dc.titleThe clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
[ X ]
İsim:
The clinical and laboratory features of patients with triple A syndrome_ a single-center experience in Turkey.pdf
Boyut:
580.22 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Makale Dosyası
İndir
Lisans paketi
Listeleniyor 1 - 1 / 1
[ X ]
İsim:
license.txt
Boyut:
1.44 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

Dahili Tıp Bilimleri Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu