Psödohipoparatiroidi Tip 2: Olgu Sunumu

Yıl 2021, , 185 - 188, 30.06.2021

Özlem Güleç Şen Emre Kaçar Tolga Altuğ Şen

https://doi.org/10.15321/GenelTipDer.2021.312

Öz

Psödohipoparatiroidi, parathormona karşı hedef organ düzeyinde cevapsızlık nedeniyle hipokalsemi ve hiperfosfatemi gelişmesiyle karakterize bir bozukluktur. Oldukça az görülen bu durumun iki tipi vardır, Tip 1 üç alt gruba ayrılmıştır. Psödohipoparatiroidi Tip 1A, diğer adıyla Albright’ın herediter osteodistrofisi klinikte karakteristik yuvarlak yüz görünümü, frontal bombelik, kısa boy, obezite, brakidaktili ve mental retardasyonu olan hastalarda kolaylıkla tanınabilirken, Tip 1B ve Tip 1C’de normal fenotipik özellikler ve normal zeka vardır. Tip 1’de paratiroid direnci ile birlikte TSH ve gonadotropin direnci de tanımlanmış hastalar bulunmakta iken, Tip 2’de sadece paratiroid hormon direnci tanımlanmıştır. Ellerde, ayaklarda kasılma şikayeti ile Kalp-Damar Cerrahisi polikliniğine başvuran 12 yaşındaki kız hastaya oldukça nadir bir durum olan psödohipoparatiroidi Tip 2 tanısı koyarak; kalsiyum, D vitamini ile başarılı bir şekilde tedavi etmemiz nedeniyle olgu sunumu yaptık.

Anahtar Kelimeler

Hipokalsemi, hiperfosfatemi, hiperparatiroidi

Pseudohypoparathyroidism Type 2: Case Report

Öz

Pseudohypoparathyroidism is a disorder characterized by hypocalcemia and hyperphosphatemia due to unresponsiveness of target organs to the parathormone. In this quite rare condition two types of disease exists and type 1 have 3 subtypes. Pseudohypoparathyroidism type 1A is known as Albright’s hereditary osteodystrophy, is clinically recognizable in patients with characteristic round face, frontal camber, short stature, obesity, brachydactyly and mental retardation, in type 1B and in type 1C, normal phenotypic features and normal intelligence were present. With parathyroid hormone resistance, TSH and gonadotropin resistance has also been identified simultaneously in type 1 patients, while in type 2 patients only parathyroid hormone resistance has been defined. Because of it was a very rare condition, we present a twelve years old girl patient admitted to Cardiovascular Surgery outpatient polyclinic with the complaint of spasm in hands and feet, diagnosed as pseudohypoparathyroidism type 2 who was treated successfully by calcium, vitamin D.

Anahtar Kelimeler

Hypocalcemia, hyperphosphatemia, hyperparathyroidy

Kaynakça

• Albright F, Burnett CH, Smith PH. Pseudohypoparathyroidism: an example of “Seabirght- Bantam syndrome.” Endocrinology 1942; 30: 922-32.
• Nakamura Y, Matsumoto T, Tamakoshi A, Kawamura T, Seino Y, Kasuga M, Yanagawa H, Ohno Y. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol 2000; 10: 29-33.
• Gardner DG, Shoback D. Greenspan s Basic & Clinical Endocrinology. Lange 9th edition. Mc graw Hill, 2011, 254-56.
• 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.
• Hatun Ş, Bereket A, Çalıkoğlu AS, Özkan B: Günümüzde D vitamini yetersizliği ve nutrisyonel rikets. Çocuk Sağ. ve Hast. Dergisi, 2003; 46:224-41.
• Misra M, Pacaud D, Petryk A, Collett-Solberg PF, Kappy M; Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society. Vitamin D deficiency in children and its management: review of current knowledge and recommendations. Pediatrics. 2008; 122: 398-417.
• Davies SJ, Hughes HE: Imprinting in Albright's hereditary osteodystrophy. J Med Genet, 1993; 30: 101-3.
• Levine MA: Hypoparathyroidism and pseudohypoparathyroidism. In: DeGroot, Jameson, et al eds. Endocrinology. 4th ed. WB Saunders Company; 2001: 1133-53.
• Maeda SS, Fortes EM, Oliveira UM, Borba VC, Lazaretti-Castro M. Hypoparathyroidism and pseudohypoparathyroidism. Arq Bras. Endocrinol Metabol 2006; 50: 664-73.
• Kidd GS, Schaaf M, Adler RA, Lassman MN, Wray HL. Skeletal responsiveness in pseudohypoparathyroidsim. A spectrum of clinical disease. Am J Med 1980; 68: 772-81.
• Levine MA. Clinical Review: Pseudohypoparathyroidism: From bedside to bench and back. J Bone Miner Res 1999; 14: 1255-60.
• Windeck R, Menken U. Basal ganglia calcification in pseudohypoparathyroidism typeII. Clin Endocrinol 1981; 15: 57-63.
• Scotti G, Scialfa G. MR imaging in Fahr disease J Comp Assist Tomog 1985; 9(4):790-2.