DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism
Yıl: 2022 Cilt: 47 Sayı: 2 Sayfa Aralığı: 852 - 860 Metin Dili: İngilizce DOI: 10.17826/cumj.1095425 İndeks Tarihi: 29-07-2022
DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism
Öz: Purpose: The aim of this study was to compare clinical,
biochemical and treatment modalities of the patients with
symptomatic and asymptomatic PHPT (primary
hyperparathyroidism), and evaluate whether the CDKN1B
mutation from these patients contributes to the
pathogenesis of typical, sporadic parathyroid adenomas.
Materials and Methods: In this prospective study 80
patients (66 women and 14 men, mean age 50.8 ± 12.01
years) with PHPT were enrolled. Biochemical and clinical
information were collected on patients’ sex, age,
biochemical examination and radiological findings (nuclear
99 mTc sestamibi scans scintigraphy, cervical ultrasound).
CDKN1B sequencing, and DNA isolation was performed
by using GeneMATRIX Quick Blood DNA Purification
Kit. Selected primer of CDKN1BF (rs786201010, c.-456_-
453delCCTT) (CAGGTTTGTTGGCAGCAGTA) and
CDKN1BR (rs786201010, c.-456_-453delCCTT)
(GGAGCCAAAAGACACAGACC) were amplified by
polymerase chain reaction (PCR) (Solis Biodyne, Estonia).
Results: A total of 80 patients diagnosed with PHPT were
included, of which 22 were symptomatic. Serum calcium
and 24-hour calcium excretion were significantly increased
in patients with symptomatic PHTP. Serum PTH levels
were similar between the two group. PHPT. CDKN1B
mutation was not detected in any patients.
Conclusion: Symptomatic patients were found to have
elevated levels of calcium levels (hypercalcaemic), 24-hour
urine calcium excretion and target organ damage (bone
disease and nephrolithiasis). Independent of PTH levels,
clinical signs and symptoms could be related with serum
calcium parameters in these patients.
Anahtar Kelime: Semptomatik veya asemptomatik primer hiperparatiroidisi olan hastaların biyokimyasal parametreleri ile CDKN1B mutasyon analizi tayini
Öz: Amaç: Bu çalışmada semptomatik ve asemptomatik
primer hiperparatiroidi (PHPT) olgularını karşılaştırmayı
amaçladık, beraberinde sporadik saptanan paratiroid
adenomlarında etyopatogenezde CDKN1B mutasyonu
varlılığını saptamaya çalıştık.
Gereç ve Yöntem: Çalışmamıza kliniğimize başvuran 80
PHPT (66 K ve 14 E, ortalama yaş 50.8 ± 12.01 yıl) tanısı
almış hasta dahil edilmiştir. Hastaların yaş, cinsiyet,
biyokimyasal parametreleri, görüntüleme yöntemleri
(nükleer sintigrafi, ultrasonografi, kemik dansitometre
ölçümü) kayıt edilmiştir. CDKN1B gen sekanslaması için
GeneMATRIX Quick Blood DNA Purification kiti
kullanılarak DNA izole edilmiştir. CDKN1BF
(rs786201010, c.-456_-453delCCTT)
(CAGGTTTGTTGGCAGCAGTA) ve CDKN1BR
(rs786201010, c.-456_-453delCCTT)
(GGAGCCAAAAGACACAGACC) primerleri seçilerek
mutasyon analizi yapılmıştır.
Bulgular: Çalışma sonucunda 22 hasta asemptomatik
PHPT olarak tanımlanmış olup semptomatik PHPT
(n=68) serum kalsiyum parametreleri ve 24 saatlik idrar
Ca+ atılımı daha yüksek olarak saptanmıştır. Serum
Parathormon (PTH) değerleri her iki grupta da benzerdi.
Her iki grupta da CDKN1B mutasyonu açısından patolojik
bir bulgu saptanmamıştır.
Sonuç: Parathormon seviyeleri semptomatik veya
asemptomatik PHPT olgularında belirleyici bir parametre
olmamakla birlikte semptomatik PHPT da serum kalsiyum
değerleri ve 24 saatlik idrar Ca+ atılımı daha belirgindir.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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APA | Akkuş G, SENGOZ COSKUN N, karagun b, tetiker T (2022). DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. , 852 - 860. 10.17826/cumj.1095425 |
Chicago | Akkuş Gamze,SENGOZ COSKUN NUR SINEM,karagun baris,tetiker Tamer DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. (2022): 852 - 860. 10.17826/cumj.1095425 |
MLA | Akkuş Gamze,SENGOZ COSKUN NUR SINEM,karagun baris,tetiker Tamer DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. , 2022, ss.852 - 860. 10.17826/cumj.1095425 |
AMA | Akkuş G,SENGOZ COSKUN N,karagun b,tetiker T DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. . 2022; 852 - 860. 10.17826/cumj.1095425 |
Vancouver | Akkuş G,SENGOZ COSKUN N,karagun b,tetiker T DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. . 2022; 852 - 860. 10.17826/cumj.1095425 |
IEEE | Akkuş G,SENGOZ COSKUN N,karagun b,tetiker T "DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism." , ss.852 - 860, 2022. 10.17826/cumj.1095425 |
ISNAD | Akkuş, Gamze vd. "DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism". (2022), 852-860. https://doi.org/10.17826/cumj.1095425 |
APA | Akkuş G, SENGOZ COSKUN N, karagun b, tetiker T (2022). DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. Cukurova Medical Journal, 47(2), 852 - 860. 10.17826/cumj.1095425 |
Chicago | Akkuş Gamze,SENGOZ COSKUN NUR SINEM,karagun baris,tetiker Tamer DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. Cukurova Medical Journal 47, no.2 (2022): 852 - 860. 10.17826/cumj.1095425 |
MLA | Akkuş Gamze,SENGOZ COSKUN NUR SINEM,karagun baris,tetiker Tamer DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. Cukurova Medical Journal, vol.47, no.2, 2022, ss.852 - 860. 10.17826/cumj.1095425 |
AMA | Akkuş G,SENGOZ COSKUN N,karagun b,tetiker T DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. Cukurova Medical Journal. 2022; 47(2): 852 - 860. 10.17826/cumj.1095425 |
Vancouver | Akkuş G,SENGOZ COSKUN N,karagun b,tetiker T DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism. Cukurova Medical Journal. 2022; 47(2): 852 - 860. 10.17826/cumj.1095425 |
IEEE | Akkuş G,SENGOZ COSKUN N,karagun b,tetiker T "DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism." Cukurova Medical Journal, 47, ss.852 - 860, 2022. 10.17826/cumj.1095425 |
ISNAD | Akkuş, Gamze vd. "DKN1B mutation analyses and biochemical characteristics in patients with symptomatic or asymptomatic primary hyperparathyroidism". Cukurova Medical Journal 47/2 (2022), 852-860. https://doi.org/10.17826/cumj.1095425 |