Öz
Psödohipoparatiroidizm, parathormon direnci ile ilişkili, nadir görülen kalıtsal bir metabolik bozukluktur. Serum kalsiyum düşükken yüksek fosfat düzeyi ve parathormon direncini düşündüren yüksek parathormon seviyeleri, bozukluğun biyokimyasal karakteristik özellikleridir. Psödohipoparatiroidizm tip 1, tipik bir fenotip ile karakterize Albright'ın kalıtsal osteodistrofisi olarak bilinir. Bu sendrom brakidaktili, yuvarlak yüz, kısa boy, santral obezite ve değişken derecelerde mental retardasyon gibi çok sayıda klinik bulguyu kapsar. Burada biz hipokalsemi ve parathormon direncinin nadir bir nedeni olan psödohipoparatiroidi tanısı alan bir hastayı sunuyoruz.
Anahtar Kelimeler
Albright herediter osteodistrofisi Hipokalsemi Parathormon direnci
Kaynakça
- Mantovani G. Pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab. 2011;96:3020-30.
- Albright F, Burnett CH, Smith PH, Parson W et al. Pseudohypoparathyroidism : An example of ‘Seabright-Bantam syndrome’. Endocrinology 1942;30:922–32.
- Mantovani G, Linglart A, Garin I, Silve C, Elli F Nanclares G et al.. Clinical utility gene card for: Pseudohypoparathyroidism. Eur J Hum Genet. 2012;21.6:5-5.
- Bringhurst FR, Demay MB, Kronenberg HM. Hormones and disorders of mineral metabolism. In: Williams Textbook of Endocrinology, 9th Ed. Baltimore, WB Saunders, 1998.
- Maeda S, Fortes E, Oliveira U, Borba V, Lazaretti-Castro M et al. Hypoparathyroidism and pseudohypoparathyroidism. Arq Bras Endocrinol Metabol. 2006;50:664-73.
- oemaker AH, and Harald J. Non-classic features of pseudohypoparathyroidism type 1A. Curr Opin Endocrinol Diabetes Obes. 2017;24.1: 33.
- Turan S, Bastepe M. GNAS spectrum of disorders. Current Osteoporos Rep. 2015;13:146-58.
- Gensure R, Gardella T, Jüppner H. Parathyroid hormone and parathyroid hormone-related peptide, and their receptors. Biochem Biophys Res Commun. 2005;328:666-78.
- Linglart A, Levine M, Jüppner H. Pseudohypoparathyroidism. Endocrinol Metab Clin North Am. 2018;47:865-88.
- Mantovani G, Bastepe M, Monk D, De Sanctis L et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients.Horm Res Pediatr. 2020;93:182-96.
Öz
Pseudohypoparathyroidism is a rare inherited metabolic disorder that associated with parathormone resistance. Low serum calcium, high phosphates and raised parathormone levels suggesting parathormone resistance are biochemical characteristic features of disorder . Pseudohypoparathyroidism type 1 is known as Albright’s hereditary osteodystrophy that characterized by a typical phenotype. This syndrome encompasses multiple clinical findings such as brachydactyly, rounded face, short stature, central obesity, and variable degrees of mental retardation. Here, we present a patient with pseudohypoparathyroidism which is rare cause of hypocalcemia and parathormone resistance .
Anahtar Kelimeler
Albright’s hereditary osteodystrophy hypocalcemia Parathormone resistance
Kaynakça
- Mantovani G. Pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab. 2011;96:3020-30.
- Albright F, Burnett CH, Smith PH, Parson W et al. Pseudohypoparathyroidism : An example of ‘Seabright-Bantam syndrome’. Endocrinology 1942;30:922–32.
- Mantovani G, Linglart A, Garin I, Silve C, Elli F Nanclares G et al.. Clinical utility gene card for: Pseudohypoparathyroidism. Eur J Hum Genet. 2012;21.6:5-5.
- Bringhurst FR, Demay MB, Kronenberg HM. Hormones and disorders of mineral metabolism. In: Williams Textbook of Endocrinology, 9th Ed. Baltimore, WB Saunders, 1998.
- Maeda S, Fortes E, Oliveira U, Borba V, Lazaretti-Castro M et al. Hypoparathyroidism and pseudohypoparathyroidism. Arq Bras Endocrinol Metabol. 2006;50:664-73.
- oemaker AH, and Harald J. Non-classic features of pseudohypoparathyroidism type 1A. Curr Opin Endocrinol Diabetes Obes. 2017;24.1: 33.
- Turan S, Bastepe M. GNAS spectrum of disorders. Current Osteoporos Rep. 2015;13:146-58.
- Gensure R, Gardella T, Jüppner H. Parathyroid hormone and parathyroid hormone-related peptide, and their receptors. Biochem Biophys Res Commun. 2005;328:666-78.
- Linglart A, Levine M, Jüppner H. Pseudohypoparathyroidism. Endocrinol Metab Clin North Am. 2018;47:865-88.
- Mantovani G, Bastepe M, Monk D, De Sanctis L et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients.Horm Res Pediatr. 2020;93:182-96.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Klinik Tıp Bilimleri |
| Bölüm | Editöre Mektup |
| Yazarlar | |
| Yayımlanma Tarihi | 31 Mart 2022 |
| Kabul Tarihi | 28 Ekim 2021 |
| Yayımlandığı Sayı | Yıl 2022 Cilt: 47 Sayı: 1 |
