Publication:
Venous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment

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dc.contributor.authorTRUE, ÖMER
dc.contributor.authorBUĞDAYCI, ONUR
dc.contributor.authorGÜRAN, TÜLAY
dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorsMenevse T. S., Iwasaki Y., Abali Z. Y., Tosun B. G., Helvacioglu D., DOĞRU Ö., BUĞDAYCI O., Cyr S. M., GÜRAN T., BEREKET A., et al.
dc.date.accessioned2023-12-11T08:43:03Z
dc.date.available2023-12-11T08:43:03Z
dc.date.issued2023-01-01
dc.description.abstractIntroduction: Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-organ resistance to multiple hormones and Albright’s hereditary osteodystrophy (AHO). PHP1A is caused by inactivating mutations of the GNAS gene encoding the α-subunit of the stimulatory G protein (Gsα). In line with the underlying genetic defect, impaired inhibition of platelet aggregation has been demonstrated in some patients. However, no PHP1A case with thrombotic events has been described. Also, PHP1A cases typically have subcutaneous ossifications, but soft tissue calcifications are another common finding. Treatment options for those and other nonhormonal features of PHP1A are limited. Case Presentation: A female patient presented with short stature, fatigue, and exercise-induced carpopedal spasms at age 117/12 years. Diagnosis of PHP1A was made based on hypocalcemia, hyperphosphatemia, elevated serum parathyroid hormone, and AHO features, including short stature and brachydactyly. A novel frameshift variant was detected in the last exon of GNAS (c.1065_1068delGCGT, p.R356Tfs*47), showing complete loss of baseline and receptor-stimulated activity in transfected cells. The patient developed venous thrombosis and vascular and subcutaneous calcifications on both forearms after venous puncture on the right and extravasation of calcium gluconate during treatment on the left. The thrombosis and calcifications completely resolved following treatment with low-molecular-weight heparin and acetazolamide for 5 and 8 months, respectively. Conclusions: This case represents the first PHP1A patient displaying thrombosis and the first successful use of acetazolamide for PHP1A-associated soft tissue calcifications, thus providing new insights into the treatment of non-endocrinological features in this disease.
dc.identifier.citationMenevse T. S., Iwasaki Y., Abali Z. Y., Tosun B. G., Helvacioglu D., DOĞRU Ö., BUĞDAYCI O., Cyr S. M., GÜRAN T., BEREKET A., et al., "Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment", Hormone Research in Paediatrics, 2023
dc.identifier.doi10.1159/000534456
dc.identifier.issn1663-2818
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178168038&origin=inward
dc.identifier.urihttps://hdl.handle.net/11424/295529
dc.language.isoeng
dc.relation.ispartofHormone Research in Paediatrics
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectSağlık Bilimleri
dc.subjectMedicine
dc.subjectInternal Medicine Sciences
dc.subjectChild Health and Diseases
dc.subjectInternal Diseases
dc.subjectEndocrinology and Metabolic Diseases
dc.subjectHealth Sciences
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectPEDİATRİ
dc.subjectClinical Medicine (MED)
dc.subjectCLINICAL MEDICINE
dc.subjectENDOCRINOLOGY & METABOLISM
dc.subjectPEDIATRICS
dc.subjectPediatri, Perinatoloji ve Çocuk Sağlığı
dc.subjectEndokrinoloji, Diyabet ve Metabolizma
dc.subjectEndokrinoloji
dc.subjectYaşam Bilimleri
dc.subjectPediatrics, Perinatology and Child Health
dc.subjectEndocrinology, Diabetes and Metabolism
dc.subjectEndocrinology
dc.subjectLife Sciences
dc.subjectAcetazolamide
dc.subjectCalcification
dc.subjectPseudohypoparathyroidism
dc.subjectThrombosis
dc.subjectα-Subunit of the stimulatory G protein
dc.titleVenous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment
dc.typearticle
dspace.entity.typePublication
local.avesis.id9272d60a-63b4-40aa-a7bb-84c51e47a0c0
local.indexed.atPUBMED
local.indexed.atSCOPUS
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