Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR

AbstractFamilial hypocalciuric hypercalcemia (FHH) is a benign autosomal dominant condition characterized by lifelong asymptomatic hypercalcemia. FHH is typically caused by a heterozygous inactivating mutation of the calcium-sensing receptor (CaSR) and characterized by moderate hypercalcemia, inappropriately normal or elevated serum parathyroid hormone (PTH), and relative hypocalciuria (FeCa  2%. PTH levels were repeatedly below the mean of the reference range (on two separate assays) and sometimes even below the lower reference limit. Two siblings, one niece, and her son had hypercalcemia without nephrolithiasis. Cinacalcet, used as a PTH-suppression test, normalized serum total and ionized calcium after 7 days of cinacalcet 30 mg BID, confirming her hypercalcemia was PTH-mediated. Given her family history, genetic testing was pursued and discovered a novel pathogenic mutation of the CaSR gene confirming the diagnosis of FHH type 1. Our case represents an atypical presentatio n of FHH1 with low PTH and FeCa>  2%. This contributes to the expanding clinical and biochemical spectrum of CaSR inactivating mutations and presents an innovative approach to evaluating biochemically uncertain familial hypercalcemia with cinacalcet before pursuing expensive genetic analysis.
Source: Osteoporosis International - Category: Orthopaedics Source Type: research

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CONCLUSION: Parathyroidectomy provided more BMD gain in the lumbar spine and femoral neck in patients with symptomatic PHPT when compared to patients with asymptomatic PHPT 1-year after parathyroidectomy. PMID: 31655512 [PubMed - as supplied by publisher]
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
When the National Institutes of Health convened the first workshop devoted to the diagnosis and management of primary hyperparathyroidism (pHPT) in 1990, astute clinicians had already appreciated that the classic presentation of this disorder, established decades before as symptomatic and progressive, was no longer the typical face of the disease. Primary hyperparathyroidism was being diagnosed with increasing frequency in asymptomatic patients and those for whom reduced bone mass was the main clinical finding. Guidelines published in 1991 from that first National Institutes of Health conference outlined the diagnostic cri...
Source: JAMA Internal Medicine - Category: Internal Medicine Source Type: research
Ryan R. Kelly1,2†, Lindsay T. McDonald1,2†, Nathaniel R. Jensen1,2, Sara J. Sidles1,2 and Amanda C. LaRue1,2* 1Research Services, Ralph H. Johnson VA Medical Center, Charleston, SC, United States 2Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, United States The significant biochemical and physiological effects of psychological stress are beginning to be recognized as exacerbating common diseases, including osteoporosis. This review discusses the current evidence for psychological stress-associated mental health disorders as risk factors for os...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Abstract CONTEXT: Primary Hyperparathyroidism (PHPT) has a prevalence of 0.86% and is associated with increased risk of nephrolithiasis and osteoporosis. PHPT may also be associated with an increased risk of cardiovascular disease and mortality. OBJECTIVE: To identify risk factors for nephrolithiasis, osteoporosis and mortality in PHPT. DESIGN: Retrospective cohort study. SETTING: University teaching hospital. PATIENTS: PHPT presenting between 2006 - 2014 (n = 611). MAIN OUTCOME MEASURES: Assessment of nephrolithiasis, osteoporosis and mortality. RESULTS: 13.9% of PHPT patients had ne...
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research
Horm Metab Res 2018; 50: 797-802 DOI: 10.1055/a-0752-4533Normocalcemic primary hyperparathyroidism (NPHPT) is a formally recognized variant of primary hyperparathyroidism (PHPT), characterized by normal total and ionized serum calcium concentrations and elevated parathyroid hormone (PTH) levels, in the absence of secondary causes for hyperparathyroidism. NPHPT has been studied previously, but data are limited and confounded. We aimed to compare the clinical and biochemical data of normocalcemic and hypercalcemic subjects in a hospital-based population.We retrospectively analysed the medical records of 131 subjects diagnose...
Source: Hormone and Metabolic Research - Category: Endocrinology Authors: Tags: Endocrine Care Source Type: research
Abstract Unexplained kidney stones, osteoporosis, or certain subtle clues may point to hyperparathyroidism. These tests and imaging options can help you to be sure. PMID: 30481255 [PubMed - in process]
Source: The Journal of Family Practice - Category: Practice Management Authors: Tags: J Fam Pract Source Type: research
This study’s purpose is to determine if the calcium levels correlate with prevalence of symptoms and surgical treatment in patients with primary HPT.MethodPatients treated in 2006-2015 with serum calcium≥10.0mg/dL and PTH>65pg/mL were identified and stratified based on calcium level: 10.0-10.3 (normocalcemia), 10.4-11.2 (moderate), and ≥11.3 (severe) mg/dL. Clinical variables and rates of surgery were compared between the three groups.ResultsA total of 2,266 patients were identified: 303 with normocalcemia, 1513 with moderate hypercalcemia, and 450 with severe hypercalcemia. All three groups had similar rate...
Source: The American Journal of Surgery - Category: Surgery Source Type: research
We report a retrospective study of cases with PHPT managed at a regional centre in the United Kingdom.MethodsClinical data of cases with calcium ≥2.6 mmol/L and parathyroid hormone (PTH) ≥9.0 pmol/L was procured from biochemistry database from January 2011 to December 2016. Laboratory parameters, imaging studies for renal stones, osteoporosis and localisation of parathyroid adenomas, type of treatment received (PTX or nonsurgical), c omplications of treatment, other medical co-morbidities and mortality during follow-up was recorded in each case to examine the outcomes of care of patients with PHPT.Resul...
Source: Endocrine - Category: Endocrinology Source Type: research
Abstract Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare autosomal recessive disorder with an estimated prevalence of 1:250,000 that was originally described by Tieder et al. Individuals with HHRH carry compound-heterozygous or homozygous (comp/hom) loss-of-function mutations in the sodium-phosphate co-transporter NPT2c. These mutations result in the development of urinary phosphate (Pi) wasting and hypophosphatemic rickets, bowing, and short stature, as well as appropriately elevated 1,25(OH)2D levels, which sets this fibroblast growth factor 23 (FGF23)-independent disorder ...
Source: Pflugers Archiv : European Journal of Physiology - Category: Physiology Authors: Tags: Pflugers Arch Source Type: research
The ectopic parathyroid tissue found in 9 –20% of patients with primary hyperparathyroidism. Abnormalities in the number and anatomical position are common. The differentiation of benign and malignant parathyroid tumors is difficult. Report: Female,63-year-old, with nephrolithiasis, osteoporosis. Primary hyperparathyroidism by adenomas di agnosed by surgery. LAB POSTQX: Ca: 14mg/dl, PTH: 597pg/ml, P: 2mg/dl, Mg: 1.70mg/dl, VitD: 16ng/ml. It is referred, with symptoms of severe symptomatic hypercalcemia, cardiovascular disorders, refractory to treatment.
Source: Bone - Category: Orthopaedics Authors: Tags: C ódigo: 29 Source Type: research
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