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British Medical Journal Aug 1968In our first 200 cases of primary hyperparathyroidism confirmed by operation 12 were also shown to have a long history either of a malabsorption syndrome or of chronic...
In our first 200 cases of primary hyperparathyroidism confirmed by operation 12 were also shown to have a long history either of a malabsorption syndrome or of chronic renal-glomerular failure. We consider that they first went through a phase of secondary hyperparathyroidism, during which one or more of the glands became autonomous adenamata. This then produced the biochemical changes of "primary" hyperparathyroidism, necessitating excision of the adenoma. This condition is best described as "tertiary" hyperparathyroidism. The transition from secondary to tertiary hyperparathyroidism occurred in four of the 12 patients while under our observation. We think the same process can be traced retrospectively in the other eight cases. The concept of tertiary hyperparathyroidism may help to explain the high incidence of other diseases in association with primary hyperparathyroidism.The behaviour of the parathyroid glands provides a valuable model for the investigation of tumour formation in man. All states occurred in our patients with primary hyperparathyroidism, from normal through hyperplasia to adenoma formation and finally to parathyroid carcinoma.
Topics: Adenoma; Adult; Aged; Diagnosis, Differential; Female; Humans; Hypercalcemia; Hyperparathyroidism; Hyperplasia; Kidney Failure, Chronic; Malabsorption Syndromes; Male; Middle Aged; Parathyroid Neoplasms; Sex Factors
PubMed: 5691200
DOI: 10.1136/bmj.3.5615.395 -
Seminars in Nephrology Mar 2013Childhood and adolescence are crucial times for the development of a healthy skeletal and cardiovascular system. Disordered mineral and bone metabolism accompany chronic... (Review)
Review
Childhood and adolescence are crucial times for the development of a healthy skeletal and cardiovascular system. Disordered mineral and bone metabolism accompany chronic kidney disease (CKD) and present significant obstacles to optimal bone strength, final adult height, and cardiovascular health. Early increases in bone and plasma fibroblast growth factor 23 (FGF23) are associated with early defects in skeletal mineralization. Later in the course of CKD, secondary hyperparathyroidism--caused by a combination of declining calcitriol values and phosphate retention--results in high-turnover renal osteodystrophy whereas increased levels of both phosphate and FGF23 contribute to cardiovascular disease. Treatment of hyperphosphatemia and secondary hyperparathyroidism improves high-turnover bone disease but fails to correct defects in skeletal mineralization. Because overtreatment may result in adynamic bone disease, growth failure, hypercalcemia, and progression of cardiovascular calcifications, therapy therefore must be titrated carefully to maintain optimal serum biochemical parameters according to stage of CKD. Newer therapeutic agents and new treatment paradigms may suppress serum PTH levels effectively while limiting intestinal calcium absorption and skeletal FGF23 stimulation and may provide future therapeutic alternatives for children with CKD.
Topics: Bone Development; Bone Diseases, Metabolic; Calcification, Physiologic; Calcium; Child; Chronic Kidney Disease-Mineral and Bone Disorder; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Humans; Hyperparathyroidism, Secondary; Parathyroid Hormone; Phosphates; Renal Insufficiency, Chronic; Vascular Calcification; Vitamin D
PubMed: 23465503
DOI: 10.1016/j.semnephrol.2012.12.017 -
Minerva Endocrinologica Dec 2004In the past decade ultrasound has become an essential part of the examination of the thyroid patient. Sonography of the thyroid has been integrated with the history and... (Review)
Review
In the past decade ultrasound has become an essential part of the examination of the thyroid patient. Sonography of the thyroid has been integrated with the history and physical exam and other thyroid tests (especially needle biopsy) to provide valuable information that has improved patient care. Advances in technology and engineering including high-resolution phased-array transducers, color flow and power Doppler have provided much more detail and information regarding thyroid and neck morphology making diagnosis more accurate. This has expanded the use of ultrasound and resulted in development of new ultrasound applications for both the diagnosis and therapy of thyroid and parathyroid disorders. Ultrasound guidance for needle biopsy of thyroid nodules has become routine. It is now being used to confirm the ultrasound diagnosis of parathyroid adenoma by measuring parathyroid hormone obtained with the needle placed in the lesion under ultrasound guidance. Likewise, non-palpable lymph nodes in the neck discovered by ultrasound and suspected of having metastatic carcinoma can be easily biopsied using ultrasound. The material can be submitted for both cytology and peptide analysis to confirm the diagnosis replacing more expensive imaging. Using these same ultrasound guidance techniques, several groups of investigators have developed methods of therapeutic ablation of tissue by chemical or physical means. This may result in an alternative to surgery for certain thyroid, parathyroid, and lymph node lesions.
Topics: Cysts; Diagnosis, Differential; Ethanol; Humans; Parathyroid Diseases; Sclerosing Solutions; Thyroid Diseases; Thyroid Neoplasms; Ultrasonography, Doppler; Ultrasonography, Doppler, Color
PubMed: 15765029
DOI: No ID Found -
Transplantation May 2022Posttransplant mineral and bone diseases are causes of fractures, and their association with cardiovascular events is being studied.
BACKGROUND
Posttransplant mineral and bone diseases are causes of fractures, and their association with cardiovascular events is being studied.
METHODS
We analyzed the evolution of biochemical, histological, and imaging parameters pre- and 1 y post-renal transplantation in 69 patients and correlated mineral and bone findings with coronary calcifications. At inclusion and after 12 mo, clinical data and echocardiographic findings were recorded, and laboratory evaluations, radiography of the pelvis and hands, and bone biopsy were performed. Noncontrast cardiac computed tomography was performed during the second evaluation.
RESULTS
Serum levels of fibroblast growth factor 23 and sclerostin decreased in all patients, parathyroid hormone levels decreased in 89.8% of patients, bone alkaline phosphatase levels decreased in 68.1% of patients, and alpha-Klotho levels increased in 65.2% of patients. More than half of the patients presented with renal osteodystrophy at both biopsies, but histological findings improved: a significant transition from high to normal or low turnover and no significant differences in volume, mineralization defect, or cortical porosity at the 2 evaluations. Alpha-Klotho, sclerostin, and bone alkaline phosphatase shifts affect bone changes. Neither echocardiographic findings nor vascular calcification scores differed between the 2 points. Both the pretransplant period (dialysis vintage, sclerostin, and low bone volume at baseline) and the maintenance of abnormalities in the posttransplant period (high turnover posttransplant) were the most reliable predictors of the severity of the coronary calcification percentile.
CONCLUSIONS
Renal transplantation improved bone and mineral abnormalities. The pretransplant period determines the severity of calcification.
Topics: Alkaline Phosphatase; Bone Density; Chronic Kidney Disease-Mineral and Bone Disorder; Female; Humans; Kidney Transplantation; Male; Minerals; Parathyroid Hormone; Renal Dialysis
PubMed: 35266925
DOI: 10.1097/TP.0000000000004099 -
Endocrinology and Metabolism (Seoul,... Mar 2020Since parathyroid hormone () was first isolated and its gene () was sequenced, only eight mutations have been discovered. The C18R mutation in , discovered in 1990, was... (Review)
Review
Since parathyroid hormone () was first isolated and its gene () was sequenced, only eight mutations have been discovered. The C18R mutation in , discovered in 1990, was the first to be reported. This autosomal dominant mutation induces endoplasmic reticulum stress and subsequent apoptosis in parathyroid cells. The next mutation, which was reported in 1992, is associated with exon skipping. The substitution of G with C in the first nucleotide of the second intron results in the exclusion of the second exon; since this exon includes the initiation codon, translation initiation is prevented. An S23P mutation and an S23X mutation at the same residue were reported in 1999 and 2012, respectively. Both mutations resulted in hypoparathyroidism. In 2008, a somatic R83X mutation was detected in a parathyroid adenoma tissue sample collected from a patient with hyperparathyroidism. In 2013, a heterozygous p.Met1_Asp6del mutation was incidentally discovered in a case-control study. Two years later, the R56C mutation was reported; this is the only reported hypoparathyroidism-causing mutation in the mature bioactive part of . In 2017, another heterozygous mutation, M14K, was detected. The discovery of these eight mutations in the gene has provided insights into its function and broadened our understanding of the molecular mechanisms underlying mutation progression. Further attempts to detect other such mutations will help elucidate the functions of PTH in a more sophisticated manner.
Topics: Humans; Mutation; Parathyroid Diseases; Parathyroid Hormone
PubMed: 32207265
DOI: 10.3803/EnM.2020.35.1.64 -
Head and Neck Pathology Mar 2021The goals of this chapter in keeping with the overall general themes of this special edition will be (1) to highlight aspects of development of the thyroid and... (Review)
Review
The goals of this chapter in keeping with the overall general themes of this special edition will be (1) to highlight aspects of development of the thyroid and parathyroid glands with particular focus on the role and contribution of the neural crest (or not) and how this may impact on the pathology that is seen, (2) to emphasize those lesions particularly more commonly arising in the pediatric population that actually generate specimens that the surgical pathologist would encounter, and (3) highlight more in depth specific lesions associated with heritable syndromes or specific gene mutations since the heritable syndromes tends to manifest in the pediatric age group. In this light, the other interesting areas of pediatric thyroid disease including medical thyroid diseases, congenital hypothyroidism, anatomic variants and aberrations of development that lead to structural anomalies will not be emphasized here.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Parathyroid Diseases; Thyroid Diseases
PubMed: 33723755
DOI: 10.1007/s12105-020-01274-5 -
Langenbeck's Archives of Surgery Oct 2023Despite advances in biochemical and radiological identification of parathyroid gland enlargement, primary hyperparathyroidism (PHPT) due to sporadic multigland... (Review)
Review
BACKGROUND
Despite advances in biochemical and radiological identification of parathyroid gland enlargement, primary hyperparathyroidism (PHPT) due to sporadic multigland parathyroid disease (MGPD) remains a perioperative diagnostic dilemma. Failure to recognise MGPD pre- or intraoperatively may negatively impact surgical cure rates and result in persistent PHPT and ongoing patient morbidity.
METHODS
We have conducted a comprehensive review of published literature in attempt to determine factors that could aid in reliably diagnosing sporadic MGPD pre- or intraoperatively. We discuss preoperative clinical features and examine pre- and intraoperative biochemical and imaging findings concentrating on those areas that give practicing surgeons and the wider multi-disciplinary endocrine team indications that a patient has MGDP. This could alter surgical strategy.
CONCLUSION
Biochemistry can provide diagnosis of PHPT but cannot reliably discriminate parathyroid pathology. Histopathology can aid diagnosis between MGPD and adenoma, but histological appearance can overlap. Multiple negative imaging modalities indicate that MGPD may be more likely than a single parathyroid adenoma, but the gold standard for diagnosis is still intraoperative identification during BNE. MGPD remains a difficult disease to both diagnose and treat.
Topics: Humans; Parathyroid Hormone; Parathyroidectomy; Parathyroid Diseases; Parathyroid Glands; Parathyroid Neoplasms; Hyperparathyroidism, Primary; Retrospective Studies
PubMed: 37806985
DOI: 10.1007/s00423-023-03087-w -
Medical Ultrasonography Mar 2011Thyroid ultrasound is easy to perform due to the superficial location of the thyroid gland, but appropriate equipment is mandatory with a linear high frequency...
Thyroid ultrasound is easy to perform due to the superficial location of the thyroid gland, but appropriate equipment is mandatory with a linear high frequency transducer (7.5 - 12) MHz. Some pathological aspects of the thyroid gland are easily diagnosed by ultrasound, like the enlargement of the thyroid volume (goiter) or the presence of nodules and cysts; while other aspects are more difficult and need more experience (diffuse changes in the structure, echogenicity and vascularization of the parenchyma, differential diagnosis of malignant nodules). Ultrasound has become the diagnostic procedure of choice in guidelines for the management of thyroid nodules; most structural abnormalities of the thyroid need evaluation and monitoring but not intervention. A good knowledge of the normal appearance of the thyroid gland is compulsory for an accurate ultrasound diagnosis.
Topics: Humans; Image Enhancement; Parathyroid Diseases; Parathyroid Glands; Thyroid Diseases; Thyroid Gland; Ultrasonography
PubMed: 21390348
DOI: No ID Found -
European Journal of Endocrinology Sep 2019PARAT, a new European Society of Endocrinology program, aims to identify unmet scientific and educational needs of parathyroid disorders, such as primary... (Review)
Review
PARAT, a new European Society of Endocrinology program, aims to identify unmet scientific and educational needs of parathyroid disorders, such as primary hyperparathyroidism (PHPT), including parathyroid cancer (PC), and hypoparathyroidism (HypoPT). The discussions and consensus statements from the first PARAT workshop (September 2018) are reviewed. PHPT has a high prevalence in Western communities, PHPT has a high prevalence in Western communities, yet evidence is sparse concerning the natural history and whether morbidity and long-term outcomes are related to hypercalcemia or plasma PTH concentrations, or both. Cardiovascular mortality and prevalence of low energy fractures are increased, whereas Quality of Life is decreased, although their reversibility by treatment of PHPT has not been convincingly demonstrated. PC is a rare cause of PHPT, with an increasing incidence, and international collaborative studies are required to advance knowledge of the genetic mechanisms, biomarkers for disease activity, and optimal treatments. For example, ~20% of PCs demonstrate high mutational burden, and identifying targetable DNA variations, gene amplifications and gene fusions may facilitate personalized care, such as different forms of immunotherapy or targeted therapy. HypoPT, a designated orphan disease, is associated with a high risk of symptoms and complications. Most cases are secondary to neck surgery. However, there is a need to better understand the relation between disease biomarkers and intellectual function, and to establish the role of PTH in target tissues, as these may facilitate the appropriate use of PTH substitution therapy. Management of parathyroid disorders is challenging, and PARAT has highlighted the need for international transdisciplinary scientific and educational studies in advancing in this field.
Topics: Education; Endocrinology; Europe; Humans; Hyperparathyroidism, Primary; Parathyroid Diseases; Parathyroid Hormone; Parathyroid Neoplasms; Societies, Medical
PubMed: 31176307
DOI: 10.1530/EJE-19-0316 -
The Journal of Clinical Endocrinology... May 2023Taking care of patients with parathyroid disorders during pregnancy requires consideration of the physiological fundamental changes in bone and mineral metabolism...
Taking care of patients with parathyroid disorders during pregnancy requires consideration of the physiological fundamental changes in bone and mineral metabolism occurring in these women. Diagnostic and therapeutic procedures regarding primary hyperparathyroidism (PHPT) and hypoparathyroidism significantly differ from the nonpregnant population. PHPT should preferably be cured by parathyroidectomy before pregnancy since in women with hypercalcemic PHPT, maternal and fetal pregnancy complications seem to increase according to the degree of hypercalcemia. Parathyroidectomy, if needed during pregnancy, is preferentially performed in the second trimester. Conservative treatment is recommended for milder cases and is mainly restricted to hydration, with only limited evidence regarding drug treatment. Women with hypoparathyroidism can be informed that there are no major concerns regarding disease-associated infertility and that the risk of pregnancy complications is low if the disease is properly managed. Regular active surveillance is recommended, as requirements for calcium and active vitamin D may change during the course of pregnancy in either direction, with an overall trend for rather reduced doses. Any woman suffering from parathyroid disorders during pregnancy requires further surveillance in the postpartum period and during lactation, as there is an increased risk of hypercalcemia after delivery. Newborns of mothers with parathyroid diseases should, depending on disease severity, be carefully monitored for calcium levels in the first days (to weeks) after delivery since intrauterine exposure to hyper- or hypocalcemia may impact their postnatal regulation of calcium metabolism.
Topics: Pregnancy; Humans; Female; Infant, Newborn; Calcium; Hypercalcemia; Parathyroid Diseases; Pregnancy Complications; Hypoparathyroidism; Parathyroidectomy; Hyperparathyroidism, Primary
PubMed: 36546344
DOI: 10.1210/clinem/dgac734