Scopus
YÖKSİS Eşleşti
The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group
Journal of Pediatric Endocrinology and Metabolism · Mart 2025
YÖKSİS Kayıtları
The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group
Journal of Pediatric Endocrinology and Metabolism · 2025 SCI-Expanded
DOKTOR ÖĞRETİM ÜYESİ BANU KADIOĞLU YILMAZ →
Makale Bilgileri
DergiJournal of Pediatric Endocrinology and Metabolism
Yayın TarihiMart 2025
Cilt / Sayfa38 · 271-278
Scopus ID2-s2.0-85215846556
Özet
Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement. This retrospective and cross-sectional study investigated seven patients from three different families diagnosed with TD. Four of seven patients were girls. Median age was 5.7 years at symptom onset and 6.5 years at diagnosis. The index case presented with neuropathy findings, and TD was diagnosed based on genetic analysis. Low lipid levels were determined in a sibling and cousins with cardiac death and gait disturbance in the family. TD was confirmed by genetic investigation. Our other patients were evaluated due to anemia, thrombocytopenia, yellow-orange hypertrophy in the tonsils, and organomegaly. Diagnosis was established with genetic analysis and low HDL. No coronary artery disease or ocular involvement was observed in any case. All patients presenting with neuropathy and gait disorders should undergo detailed tonsil examinations and HDL tests. Genetic analysis should be carried out if necessary. Family screening should be recommended to patients with consanguineous marriages after diagnosis of TD.
Yazarlar (8)
1
Selcan Öztürk
ORCID: 0000-0002-3517-2983
2
Muhammet Ensar Doǧan
3
Banu Kadloǧlu Yllmaz
ORCID: 0000-0002-5521-7659
4
Ayten Güleç
5
Pembe Soylu Üstkoyuncu
6
Fatih Kardaş
7
Hakan Gümüş
8
Hüseyin Per
ORCID: 0000-0001-9904-6479
Anahtar Kelimeler
ABCA1 gene
consanguineous marriage
high-density lipoprotein
orange-yellow tonsils
peripheral neuropathy
tangier disease
Kurumlar
Erciyes University, Faculty of Medicine
Kayseri Turkey
Kayseri City Training and Research Hospital
Kayseri Türkiye
Selçuk Tip Fakültesi
Konya Turkey