Psödohipoparatiroidi Tip 1A: Olgu Sunumu

Mehmet Güven; Zafer Pekkolay; Hikmet Soylu; Belma Özlem Tural Balsak; Alpaslan Kemal Tuzcu

doi:10.5798/dicletip.319782

Psödohipoparatiroidi Tip 1A: Olgu Sunumu

Abstract

Psödohipoparatiroidizm (PHPT); hedef organın parathormona (PTH) yanıt vermediği kalıtımsal bir bozukluktur.
Biyokimyasal olarak; hipokalsemi, hiperfosfatemi ve PTH yüksekliği ile karakterizedir. PTH uygulamasına verilen
yanıt belirgin derecede düşüktür. Tip 1A, biyokimyasal özelliklere ek olarak Albright herediter osteodistrofisi (AHO)
olarak bilinen karakteristik somatik bir fenotipe de sahiptir. Bu fenotipin, kısa boy, yuvarlak yüz, frontal bombelik,
brakidaktili, obezite özelikleri bulunmaktadır. Burada biz, hipokalsemi ve Albright herediter osteodistrofisi tanısı
koyduğumuz; kalsiyum, aktif D vitamini ile tedavi ettiğimiz olgumuzu sunduk.

Keywords

Psödohipoparatiroidi,hipokalsemi

References

1. Doyle DA, Digeorge AM. Pseudohypoparathyroidism (Albright hereditary osteodystrophy). In Kliegman RM, Behrman RE, Jenson HB, Stanton BF (eds). Nelson Textbook of Pediatrics, 18th ed. Philadelphia, Saunders Co; 2007; 2344-5.
2. Goswami M, Verma M, Singh A, et al. Albright hereditary osteodystrophy: a rare case report. J Indian Soc Pedod Prev Dent 2009; 27: 184-8.
3. Bringhurst FR, Demay MB, Kronenberg HM: Hormones and disorders of mineral metabolism. In: Williams Textbook of Endocrinology. 9th ed. WB Saunders Company, 1998: 1155-1209.
4. Maeda SS, Fortes EM, Oliveira UM, et al. Hypoparathyroidism and pseudohypoparathyroidism. Arq Bras. Endocrinol Metabol 2006; 50: 664-73.
5. Weinstein LS, Gejman PV, Friedman E et al. Mutations of the Gs -subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci US A 1990; 87:8287–90.
6. Ally MR, Bernet VJ, Atwood JE. Visual vignette. Type 1A pseudohypoparathyroidism. Endocr Pract 2008; 14:952-3.
7. Levine M. Hypoparathyroidism and pseudohypoparathyroidism.In: DeGroot LJ, Jameson JL. Endocrinology, 4thed. Philadelphia: WB Saunders, 2001. pp. 1133-53.
8. Spiegel AM. Hypercalcemia and Hypocalcemia. In Wyngaarden JB, Smith LH, BennettJC (eds). The Parathyroid Glands, Philadelphia, Saunders Company 1992: 1418-20.

Details

Primary Language

English

Subjects

-

Journal Section

Case Report

Authors

Mehmet Güven
Türkiye

Zafer Pekkolay This is me
Türkiye

Hikmet Soylu This is me
Türkiye

Belma Özlem Tural Balsak This is me
Türkiye

Alpaslan Kemal Tuzcu This is me
Türkiye

Publication Date

June 7, 2017

Submission Date

June 7, 2017

Acceptance Date

-

Published in Issue

Year 2017 Volume: 44 Number: 2

DOI

https://doi.org/10.5798/dicletip.319782

IZ

https://izlik.org/JA54FJ53KG

Cite

RIS / Bibtex

APA

Güven, M., Pekkolay, Z., Soylu, H., Tural Balsak, B. Ö., & Tuzcu, A. K. (2017). Psödohipoparatiroidi Tip 1A: Olgu Sunumu. Dicle Medical Journal, 44(2), 213-217. https://doi.org/10.5798/dicletip.319782

AMA

1.Güven M, Pekkolay Z, Soylu H, Tural Balsak BÖ, Tuzcu AK. Psödohipoparatiroidi Tip 1A: Olgu Sunumu. Dicle Medical Journal. 2017;44(2):213-217. doi:10.5798/dicletip.319782

Chicago

Güven, Mehmet, Zafer Pekkolay, Hikmet Soylu, Belma Özlem Tural Balsak, and Alpaslan Kemal Tuzcu. 2017. “Psödohipoparatiroidi Tip 1A: Olgu Sunumu”. Dicle Medical Journal 44 (2): 213-17. https://doi.org/10.5798/dicletip.319782.

EndNote

Güven M, Pekkolay Z, Soylu H, Tural Balsak BÖ, Tuzcu AK (June 1, 2017) Psödohipoparatiroidi Tip 1A: Olgu Sunumu. Dicle Medical Journal 44 2 213–217.

IEEE

[1]M. Güven, Z. Pekkolay, H. Soylu, B. Ö. Tural Balsak, and A. K. Tuzcu, “Psödohipoparatiroidi Tip 1A: Olgu Sunumu”, Dicle Medical Journal, vol. 44, no. 2, pp. 213–217, June 2017, doi: 10.5798/dicletip.319782.

ISNAD

Güven, Mehmet - Pekkolay, Zafer - Soylu, Hikmet - Tural Balsak, Belma Özlem - Tuzcu, Alpaslan Kemal. “Psödohipoparatiroidi Tip 1A: Olgu Sunumu”. Dicle Medical Journal 44/2 (June 1, 2017): 213-217. https://doi.org/10.5798/dicletip.319782.

JAMA

1.Güven M, Pekkolay Z, Soylu H, Tural Balsak BÖ, Tuzcu AK. Psödohipoparatiroidi Tip 1A: Olgu Sunumu. Dicle Medical Journal. 2017;44:213–217.

MLA

Güven, Mehmet, et al. “Psödohipoparatiroidi Tip 1A: Olgu Sunumu”. Dicle Medical Journal, vol. 44, no. 2, June 2017, pp. 213-7, doi:10.5798/dicletip.319782.

Vancouver

1.Mehmet Güven, Zafer Pekkolay, Hikmet Soylu, Belma Özlem Tural Balsak, Alpaslan Kemal Tuzcu. Psödohipoparatiroidi Tip 1A: Olgu Sunumu. Dicle Medical Journal. 2017 Jun. 1;44(2):213-7. doi:10.5798/dicletip.319782