Psödohipoparatiroidi Tip 1A: Olgu Sunumu

Year 2017, Volume: 44 Issue: 2, 213 - 217, 07.06.2017

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

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

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.
• 9. Levine MA. Clinical Review: Pseudohypoparathyroidism:From bedside to bench and back. J Bone Miner Res 1999; 14: 1255-60.
• 10. Sachs C, Sjoberg HE, Ericson K. Basal ganglion calcification onCT :relation to hypopara-thyroidism.Neurology 1982;32:779-82.
• 11. Faissolle P, Wagner-Mahler K, Mas JC, at al. A cause of intracerebral calcifications that should be known: pseudohypoparathyroidism Ib. Arch Pediatr 2008;15:1433-6.