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Emerging biomarkers in Gaucher disease.
Adv Clin Chem
January 2025
Center for Orphan Drug Research, Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN, United States. Electronic address:
Gaucher disease (GD) is a rare lysosomal disorder characterized by the accumulation of glycosphingolipids in macrophages resulting from glucocerebrosidase (GCase) deficiency. The accumulation of toxic substrates, which causes the hallmark symptoms of GD, is dependent on the extent of enzyme dysfunction. Accordingly, three distinct subtypes have been recognized, with type 1 GD (GD1) as the common and milder form, while types 2 (GD2) and 3 (GD3) are categorized as neuronopathic and severe.
View Article and Find Full Text PDFChapter 4: DIFFERENTIAL DIAGNOSIS of PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Service d'Endocrinologie, Diabétologie, Métabolisme, Nutrition; Hôpital Huriez, CHU Lille; Inserm U1190, Institut Génomique Européen pour le Diabète, Université de Lille, F-59000 Lille, France. Electronic address:
The differential diagnosis of primary hyperparathyroidism can be considered clinically, biologically and radiologically. Clinically, primary hyperparathyroidism should be suspected in case of diffuse pain, renal lithiasis, osteoporosis, repeated fracture, cognitive or psychiatric disorder, or disturbance of consciousness. Nevertheless, the differential diagnosis of primary hyperparathyroidism is mainly biological, particularly in atypical forms, which must be differentiated from hypercalcemia with hypocalciuria or non- elevated PTH on the one hand, and from normo-calcemia with elevated PTH, hypophosphatemia or hypercalciuria on the other.
View Article and Find Full Text PDFChapter 3: IMPACT OF PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Hospices Civils de Lyon, Groupement Hospitalier Est, Endocrinology Federation, Lyon, France.
At present, primary hyperparathyroidism is most often discovered in an asymptomatic patient, but can sometimes be revealed by a renal or bone complications. In all cases, a full work-up is recommended, with assessment of renal function (glomerular filtration rate), 24-hour calciuria, screening for risk factors for lithiasis, and renal and urinary tract imaging (ultrasound or CT scan) to look for stones or nephrocalcinosis. Bone densitometry, with measurements of the spine, femur and radius, is the recommended reference test for demineralization.
View Article and Find Full Text PDFChapter 2: PRIMARY HYPERPARATHYROIDISM: DIAGNOSIS.
Ann Endocrinol (Paris)
January 2025
University of Brest, CHU Brest, UMR1304 GETBO, 29200 Brest, France; Endocrinology and Diabetology Department, CHU Brest, 29200 Brest, France.
Primary hyperparathyroidism is now predominantly an asymptomatic pathology, as blood calcium assay has become systematic. Diagnosis therefore requires screening for target organ damage when this is not already indicative of primary hyperparathyroidism.Classical clinical manifestations include bone, kidney and muscle signs, and are characterized by reversibility after parathyroid surgery.
View Article and Find Full Text PDFChapter 14: POST-SURGICAL FOLLOW-UP.
Ann Endocrinol (Paris)
January 2025
Department of Endocrinology, Diabetes and Metabolic Diseases, Angers University Hospital, Reference Center for Rare Thyroid and Hormone Receptor Diseases, 49933 Angers cedex 09, France; Univ Angers, Inserm, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, F-49000 Angers, France. Electronic address:
Primary hyperparathyroidism is treated surgically. Postoperatively, close monitoring of blood calcium levels is necessary to detect any hypocalcemia. Postoperative PTH assays can be performed within 24 hours to identify patients who will not develop permanent hypoparathyroidism.
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