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Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Antalya Training and Research Hospital, University of Health Sciences, Antalya, Türkiye.
Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor () gene, leading to significant hypercalcemia and related complications.
Case Presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous mutation (c.242T>A; p.
Surgical parathyroidectomy in pregnancy for severe secondary hyperparathyroidism associated with end-stage kidney disease.
BMJ Case Rep
January 2025
Maternity Services, The Royal Women's Hospital, Parkville, Victoria, Australia.
Secondary hyperparathyroidism (SHPT) is common in patients with end-stage kidney disease (ESKD) on kidney replacement therapy, which leads to abnormalities of bone and mineral metabolism. Patients conceiving on kidney replacement therapy add a further layer of complexity to the management of their SHPT. Existing literature in cases of primary hyperparathyroidism (PHPT) has linked untreated hyperparathyroidism to increased maternal and fetal morbidity, including hypertensive disorders of pregnancy, fetal growth restriction and neonatal hypocalcaemia.
View Article and Find Full Text PDFDemineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.
Case Rep Endocrinol
December 2024
Henry Ford St. John Hospital, Detroit, Michigan, USA.
Article Synopsis
- A female neonate born to consanguineous parents exhibited severe hyperparathyroidism (NSHPT) after a C-section, showing signs of respiratory distress and skeletal abnormalities following birth.
- Diagnostic challenges included elevated calcium levels and a homozygous variant in the calcium-sensing receptor (CaSR) gene, leading to the establishment of NSHPT.
- Management of NSHPT is critical due to its high mortality risk; treatment options typically involve addressing the high calcium levels and associated metabolic issues.
A Case of Osteitis Fibrosa Cystica of the Mandible: A Rare Presentation during Pregnancy due to Mutation.
J ASEAN Fed Endocr Soc
December 2024
Topiwala National Medical College and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, India.
Typically, primary hyperparathyroidism (PHPT) develops as a result of multiglandular hyperplasia, parathyroid cancer, or parathyroid adenoma. Patients usually present with skeletal manifestations such as low-trauma fractures. Osteitis fibrosa cystica (OFC) is a classic yet rare skeletal manifestation of advanced PHPT currently reported in less than 2% of patients.
View Article and Find Full Text PDFCASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.
J Clin Endocrinol Metab
January 2025
Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Context: Genetic testing of the calcium-sensing receptor (CASR) gene is crucial for confirming diagnoses of familial hypocalciuric hypercalcemia type I (FHH1) and autosomal dominant hypocalcemia type I (ADH1). Therefore, we created a publicly accessible comprehensive database of the disease-causing variants of the CASR gene.
Evidence Acquisition: We used 2 sources for variant reports: (1) we conducted a systematic review in the Embase and PubMed databases from inception to March 2023, using search strategies associated with CASR.
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