Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
A Novel Pathogenic Gene Variant in Hyperparathyroidism-jaw Tumor Syndrome.
JCEM Case Rep
February 2025
Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama 222-0036, Japan.
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare hereditary disorder caused by pathogenic gene variants. We report the case of a patient with HPT-JT who carried a novel germline pathogenic variant. A 27-year-old woman presented with thirst, polyuria, fatigue, constipation, and a history of fibro-osseous mandible lesions and endometrial polyps.
View Article and Find Full Text PDFRapidly progressive glomerulonephritis as an unusual type of renal involvement in sarcoidosis: a case report.
J Med Case Rep
January 2025
Transplant-Nephrology Department, Transplantation Center, University Hospital Martin, Kollarova 2, 03601, Martin, Slovakia.
Introduction: Sarcoidosis is a multisystem inflammatory disease of unknown etiology characterized by the formation of noncaseating epithelioid granulomas. Clinically significant renal involvement is rare in sarcoidosis. It most commonly manifests as chronic tubulointerstitial nephritis and nephrocalcinosis with nephrolithiasis.
View Article and Find Full Text PDFPrimary Hyperparathyroidism: A Common Condition With an Uncommon Location.
Cureus
December 2024
Endocrinology Department, Hospital de Egas Moniz - Centro Hospitalar de Lisboa Ocidental, Lisbon, PRT.
Primary hyperparathyroidism (PHPT) is a prevalent clinical condition characterized by an inappropriate secretion of parathyroid hormone (PTH). It is most often caused by one or more parathyroid adenomas, which can, in rare cases, be ectopically located. Ectopic adenomas can pose a diagnostic challenge, lead to treatment delay, and be a common cause of recurrent hypercalcemia after parathyroidectomy.
View Article and Find Full Text PDFNeonatal 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.
Case report: Prolonged and severe hungry bone syndrome after parathyroidectomy in X-linked hypophosphatemia.
Front Endocrinol (Lausanne)
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Tertiary hyperparathyroidism is characterized by hypercalcemia resulting from autonomous parathyroid hormone production and usually occurs after a prolonged period of secondary hyperparathyroidism. This condition can be a complication of X-linked hypophosphatemia (XLH), a rare genetic disease characterized by renal phosphate loss and consequent hypophosphatemia. Parathyroidectomy is considered the first-line therapy but surgical intervention can be complicated by hungry bone syndrome.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!