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PSÖDOHİPOPARATİROİDİZM TANILI VAKALARIMIZDA PTH TESTİ VE Gs PROTEİN DÜZEYİ İLE TİP TAYİNİ VE KLİNİK SEYİR İLE İLİŞKİSİ

Journal Name:

  • İstanbul Tıp Fakültesi Dergisi

Publication Year:

  • 2001

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Classification of pseudohypoparathyroidism with pth test and gs protein levels and coırelation witlı the ciinical coıırse. Pseudohypoparathyroidism (PHP), caused by decreased Gs protein acti-vity, is a rare disease which is characterised by parafhormone resistance. İn type 1 PHP, the defici-ency of other hormones which act by Gs protein can also be encountered. The patients, who were 3 months, 14 and 13,7 years old, presented with seizures, exhaustion and carpopedal spasm. Ca-se 1 also had extended jaundice and constipation. Case 2 and 3 had mild course facies on physical examination and case 3 had short 5lh metacarp. Case 2 and 3 had mental retardation and case 1 had mild motor retardation.» Ali three cases had hypocalcemia, hyperphosphatemia, increased alkaline phosphatase and parafhormone (PTH) levels. Case 3 had multıple calcification on compu-terized cranial tomography, Case 1 also had primary hypothyroidism. Diagnosis of PHP was confirmed in case 1 (typel ) and 2 (type 2) by PTH test. Gs protein activity was found low (70 %) (normal range: (85-110 %) in case 3, compatible with type 1 PHP . Case 2 had normal Gs protein activity in remission. The patients were put on calcium and active vitamine D therapy. Nephrocalcinosis was observed in the second year of therapy in case 2. Remission was encountered in case 1 and 2 and the therapy was discontinued. In conclusion, it is noteworthy that our patient with type 2 PHP had multiple hormone resistance which is frequently observed in typel PHP. Spontaneous remission may occur in the natural prog-ress of PHP for which patients should be checked at certain intervals.
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Abstract (Original Language): 
Psödohipoparatiroidizm (PHP) parathormona doku yanıtsızhğına bağlı hipokalsemi, hiperfosfate-mi ile karakterize, parathormon vermekle bulgularının düzeltilemediği heterojen bir hastalık grubudur. Gs protein aktivitesinde düşüklük bulunan Tip la PHP'de Gs proteinin aracılık ettiği diğer hormonlara da direnç ortaya çıkabilmektedir. Kliniğimize konvülziyon geçirme, halsizlik, karpo-pedal spazm nedeniyle başvuran 3 erkek vaka (sırasıyla 3 ay, 14 yaş, 13.7 yaş) incelendi. Vaka l'in aynı zamanda uzamış sarılık ve kabızlık yakınması mevcuttu. Fizik muayenede hafif kaba yüz görünümü, vaka 3'de ayrıca ellerde 5.metakarp kısalığı dikkat çekiyordu. Vaka 1 hafif motor geriliğe vaka 2 ve 3 ise mental geriliğe sahipti. Hipokalsemi, hiperfosfatemi, alkali fosfataz ve parathormon yüksekliği mevcuttu. Vaka 3'de bilgisayarlı beyin tomografisinde yaygın kalsifikas-yon odakları gözlendi.. Vaka l'e ilave olarak primer hipotiroidi eşlik ediyordu.PTH testi ile vaka l'de tip 2, vaka 2'de ise tip 1 PHP tanısı kesinleşti. Gs protein aktivitesi vaka 3'de düşük (%70) (N:%85-110) ve tipi PHP ile uyumlu bulundu.Vaka 2'nin ise remisyon döneminde bakılabilen Gs protein aktivitesi normaldi. Vakaların hepsine kalsiyum ve aktif D vitamini, vaka l'e ilave olarak L-tiroksin yerine koyma tedavisi başlandı. Vaka 2'de izlemin 2.yılında nefrokalsinoz gelişti. Vaka 1 ve 2'de izlem sırasında (sırasıyla 3.5 ve 2.7 yıl) spontan düzelme gözlendi, aktif D vitamini tedavisine ihtiyaç kalmadı.. Psödohipoparatiroidizm tanılı vakalarda çoğul hormon direncinin tip 1 vakalarına eşlik ettiğinin bildirilmesine karşın, bizim tip 2 PHP tanılı vakamızda TSH direnci bulunması ve iki vakamızın izlem sırasında spontan düzelme göstermesi ilginç bulundu. Sonuç olarak PHP'li vakalarının çoğul hormon direncinin eşlik edebilmesi ve tedavi sırasında nefrokalsinoz gelişebilmesi gibi durumlar açısından yakından izlenmeleri gerekmektedir. Ayrıca PHP'li vakalarda PTH'ya yanıtsızlığın spontan olarak düzelebildiği akılda tutulmalıdır.
FULL TEXT (PDF): 
PDF icon arastirmax-psodohipoparatiroidizm-tanili-vakalarimizda-pth-testi-gs-protein-duzeyi-ile-tip-tayini-klinik-seyir-ile-iliskisi.pdf
  • 4
182-188
  • Turkish

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