Öz
Familial hypercholanemia-2 is a condition caused by mutations in the human solute carrier family 10 member 1
(SLC10A1) gene, which results in the inability to transport conjugated bile salts from plasma to hepatocytes. This is due
to the sodium taurocholate cotransport polypeptide encoded by the gene being affected. Although the gene was first
described in 1994, there is limited knowledge on the clinical features of the disease. In the few reported cases, both clinical
and laboratory findings have varied. We reported a twelve-year-old girl was diagnosed with familial hypercholanemia-2
through a whole gene exome sequencing study. She was brought in with asymptomatic hypertransaminasemia, and
after comprehensive studies on etiology failed to detect the cause, genetic testing was done. The patient had no
clinically abnormal findings but had hypercholanemia (bile acid level 81.9 μmol/L) (fasting < 10 μmol/L, postprandial <
15 μmol/L) and hypertransaminasemia in laboratory examinations.
It is believed that the disease can present with a wide range of phenotypes, and laboratory findings may differ between
patients depending on the underlying genetic mutation or mechanisms that have not yet been identified. Therefore, it is
recommended to expand diagnostic genetic examinations in patients with hypertransaminasemia whose cause cannot
be determined
Anahtar Kelimeler
Bile acids and salts cholestasis hypercholanemia Sodium taurocholate cotransporting polypeptide
Kaynakça
- Deng M, Mao M, Guo L, Chen FP, Wen WR, Song YZ. Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency. Exp Ther Med 2016;12:3294-300.
- 2. Stieger B. The role of the sodium-taurocholate cotransporting polypeptide (NTCP) and of the bile salt export pump (BSEP) in physiology and pathophysiology of bile formation. Handb Exp Pharmacol 2011;201:205-59.
- 3. Vaz FM, Paulusma CC, Huidekoper H, et al. Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology 2015;61:260-7.
- 4. Tan HJ, Deng M, Qiu JW, Wu JF, Song YZ. Monozygotic Twins Suffering From Sodium Taurocholate Cotransporting Polypeptide Deficiency: A Case Report. Front Pediatr 2018;6:354.
- 5. Dong C, Zhang BP, Wang H, Xu H, Zhang C, Cai ZS, et al. Clinical and histopathologic features of sodium taurocholate cotransporting polypeptide deficiency in pediatric patients. Medicine (Baltimore) 2019;98:e17305.
- 6. Zou TT, Zhu Y, Wan CM, Liao Q. Clinical features of sodiumtaurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.Transl Pediatr 2021;10:1045-54.
- 7. Lin H, Qiu JW, Rauf YM, Lin GZ, Liu R, Deng LJ, et al. Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases. Front Genet 2019;10:1108.
Öz
Ailesel hiperkolanemi-2, SLC10A1 genindeki mutasyonların neden olduğu, konjuge safra tuzlarının plazmadan
hepatositlere taşınmasındaki bozukluk ile sonuçlanan bir durumdur. Bunun nedeni, etkilenen gen tarafından kodlanan sodyum taurokolat kotransport polipeptididir. Gen ilk olarak 1994 yılında tanımlanmış olmasına rağmen hastalığın klinik özelliklerine ilişkin bilgiler sınırlıdır. Bildirilen birkaç vakada da hem klinik hem de laboratuvar bulguları farklılık göstermiştir. Bu yazımızda; tüm ekzon dizi analizi çalışmasıyla; ailesel hiperkolanemi-2 tanısı alan on iki yaşında bir kız hastayı sunuyoruz. Asemptomatik hipertransaminazemi nedeniyle getirilen hastaya, etiyolojiye yönelik kapsamlı çalışmalar sonucunda nedenin belirlenememesi üzerine genetik temelli tanı testleri yapıldı. Klinik olarak asemptomatik olan hastanın, laboratuvar incelemelerinde hiperkolanemi (safra asidi düzeyi 81.9 μmol/L) (açlık < 10 μmol/L, tokluk < 15 μmol/L) ve hipertransaminazemi mevcuttu. Hastalığın çok çeşitli fenotiplerle ortaya çıkabileceği ve altta yatan genetik mutasyon veya henüz tanımlanamayan mekanizmalara bağlı olarak laboratuvar bulgularının hastalar arasında farklılık gösterebileceği düşünülmektedir. Bu nedenle nedeni belirlenemeyen hipertransaminazemili hastalarda tanısal genetik incelemelerin yaygınlaştırılması önerilmektedir.
Anahtar Kelimeler
Safra asitleri ve tuzları Kolestaz Hiperkolanemi Sodyum taurokolat birlikte taşınan polipeptit
Kaynakça
- Deng M, Mao M, Guo L, Chen FP, Wen WR, Song YZ. Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency. Exp Ther Med 2016;12:3294-300.
- 2. Stieger B. The role of the sodium-taurocholate cotransporting polypeptide (NTCP) and of the bile salt export pump (BSEP) in physiology and pathophysiology of bile formation. Handb Exp Pharmacol 2011;201:205-59.
- 3. Vaz FM, Paulusma CC, Huidekoper H, et al. Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology 2015;61:260-7.
- 4. Tan HJ, Deng M, Qiu JW, Wu JF, Song YZ. Monozygotic Twins Suffering From Sodium Taurocholate Cotransporting Polypeptide Deficiency: A Case Report. Front Pediatr 2018;6:354.
- 5. Dong C, Zhang BP, Wang H, Xu H, Zhang C, Cai ZS, et al. Clinical and histopathologic features of sodium taurocholate cotransporting polypeptide deficiency in pediatric patients. Medicine (Baltimore) 2019;98:e17305.
- 6. Zou TT, Zhu Y, Wan CM, Liao Q. Clinical features of sodiumtaurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.Transl Pediatr 2021;10:1045-54.
- 7. Lin H, Qiu JW, Rauf YM, Lin GZ, Liu R, Deng LJ, et al. Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases. Front Genet 2019;10:1108.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Klinik Tıp Bilimleri (Diğer) |
| Bölüm | CASE REPORTS |
| Yazarlar | |
| Erken Görünüm Tarihi | 13 Mayıs 2024 |
| Yayımlanma Tarihi | |
| Gönderilme Tarihi | 9 Ocak 2024 |
| Kabul Tarihi | 4 Mart 2024 |
| Yayımlandığı Sayı | Yıl 2024 ERKEN GÖRÜNÜMLÜ MAKALELER |