Nodular hyperplasia of parathyroid gland in chronic kidney disease – A case report

Nodular hyperplasia of parathyroid gland is an advanced state commonly seen in a secondary and tertiary hyperparathyroidism. It shares similarities on histology with parathyroid adenoma creating a diagnostic dilemma. Adequate history, biochemical investigations and radiological studies majorly supports the accurate diagnosis. Identifying correct state of hyperparathyroidism is essential in a view of therapeutic management and its outcome.

Effects of Parathyroidectomy on Normocalcemic Primary Hyperparathyroidism and the Role of Intraoperative PTH Measurement

Background Normocalcemic primary hyperparathyroidism (NCpHPT) and normohormonal primary hyperparathyroidism (NHpHPT) are recently recognized variants of primary hyperparathyroidism. Current guidelines for the management hyperparathyroidism recognize NCpHPT as one of the areas that are recommended for more research due to limited available data. Methods A retrospective review of patients who had parathyroidectomy between 2014 and 2019. We excluded patients with multiple endocrine neoplasia syndromes and secondary and tertiary hyperparathyroidism. Included patients were classified based on the biochemical profile into classic or normocalcemic hyperparathyroidism group. Collected data included demographics, preoperative localizing imaging, intraoperative parathyroid hormone levels, and postoperative cure rates. Results 261 patients were included: 160 patients in the classic and 101 patients in the normocalcemic group. Patients in the normocalcemic group had significantly more negative sestamibi scans (n = 58 [8.2%] vs 78 [51.3%], P = <.01), smaller parathyroid glands (mean weight 436.0 ± 593.0 vs 742.4 ± 1109.0 mg, P = .02), higher parathyroid hyperplasia rates (n = 51 [50.5%] vs 69 [43.1%]), and significantly higher intraoperative parathyroid hormone at 10 minutes (78.1 ± 194.6 vs 43.9 ± 62.4 1, P = .04). Positive predictive value of both intraoperative parathyroid hormone and cure rate was lower in the normocalcemic group (84.2% vs 95.7%) and (80.5% vs 95%), respectively. Conclusion Normocalcemic hyperparathyroidism is a challenging disease. Surgeons should be aware of the lower cure rate in this group, interpret intraoperative parathyroid hormone with caution, and have a lower threshold for bilateral neck exploration and 4 glands visualization.

Safety in parathyroid surgery: innovation in diagnostic and minimally invasive operations

The main treatment method of primary and tertiary hyperparathyroidism is surgery. However, surgical interventions on the parathyroid glands can lead to formidable complications such as laryngeal paresis and hypocalcemia. With this background, a comprehensive study examined the effectiveness of modern methods of diagnosis and surgical treatment of hyperparathyroidism to increase the safety level in surgery of the thyroid gland. The results of a comprehensive examination and treatment of 53 patients with hyperparathyroidism who underwent surgery using three methods were analyzed: traditional (n = 18/34); minimally invasive endoscopically assisted (n = 32/60), and endoscopic (transoral) (n = 3/6). Intraoperative neuromonitoring was also performed in all surgical interventions. Parathyroidectomy was performed under parathyroid monitoring for intraoperative topical diagnosis of parathyroid tumors in nine patients. The use of minimally invasive endoscopically assisted access to the parathyroid glands, as an alternative to the traditional approach, indicated that the preoperative potential in the diagnosis of parathyroid disorders. Moreover, intraoperative neuromonitoring and parathyroid monitoring demonstrated efficiency based on the decline in the incidence of specific postoperative complications with a tolerable increase in operative time, maintenance of the average duration of stationary treatment after surgery, and increased safety level of surgical treatment of hyperparathyroidism.

Modern problems of hyper- and hypoparathyroidism

The parathyroid glands are the most important regulators of mineral metabolism. The parathyroid glands were first discovered only in 1880 and their function went the long way unrecognized. Even the term "parathyroid gland" itself speaks of the initial misconception of it as an underdeveloped part of the thyroid. To date, there is a large amount of data regarding the role of this endocrine gland in the human body and the significant changes associated with their dysfunction, including such widespread diseases such primary, secondary and tertiary hyperparathyroidism, hypoparathyroidism. This review covers the problem of the main disturbances in calcium-phosphorus metabolism, presents the results of databases of patients with primary hyperparathyroidism and hypoparathyroidism, as well as current epidemiological trends in Russia and in the world.

X-Linked Hypophosphatemic Rickets: Report of a Novel PHEX Mutation and Cinacalcet as Adjuvant Therapy in the Mineral Metabolism Control

X-linked hypophosphatemic rickets (XLH) is a rare disease caused by a mutation in the PHEX gene, located on the X chromosome. This gene encodes the phosphate regulating endopeptidase, and its inactivation leads to increased levels of circulating phosphatonins responsible for renal phosphate loss. The treatment of XLH is still carried out with long-term administration of phosphate and calcitriol, which can be complicated by hyperparathyroidism, nephrocalcinosis, renal failure and hypertension. We describe the case of a four-decades follow-up patient with XLH. When she was diagnosed, at 19, due to bone pain and deformities, she was put on therapy with phosphorus and cholecalciferol. Despite the clinical improvement, serum phosphorus remained difficult to control. At the age of 44, she developed tertiary hyperparathyroidism and was submitted to parathyroidectomy. Five years later, parathyroid hyperfunction recurred. This time, cinacalcet was started, 30 mg alternating with 60 mg/day. Currently, she is 59 years-old and remains with controlled mineral metabolism. The genetic study of this patient revealed a nonsense heterozygous mutation (c.501G&gt; A) in PHEX gene that was not previously described. In this case, the off-label use of cinacalcet resulted in the normalization of serum PTH and phosphorus levels, eliminated recurrent secondary hyperparathyroidism, which aggravates the bone fragility inherent to XLH and prevented a new parathyroidectomy. This report also adds important information to the genetic basis of XLH with the identification of a new nonsense mutation of the PHEX gene.

Progressive valvular calcifications with critical aortic stenosis in a 25-year-old woman with end-stage renal disease on haemodialysis: a case report

Background The increased risk of cardiovascular morbidity and mortality in chronic kidney disease (CKD) and end-stage renal disease (ESRD) seems particularly pronounced in patients with concomitant aortic and mitral valvular calcifications. Valvular calcification (VC) is accelerated in patients with CKD and even more so with ESRD and haemodialysis (HD) due to premature endothelial cell dysfunction. Mineral and bone disorder (CKD-MBD) is a common complication of CKD/ESRD and may play a pivotal role in VC. Case summary A 25-year-old woman with congenital hypoplastic kidneys and ESRD on HD from the age of 19 was admitted to the emergency department suffering from chest pain and dyspnoea. Transthoracic echocardiogram (TTE) revealed critical aortic stenosis (AS) with indexed aortic valve area 0.4 cm2/m2, a mean gradient 58 mmHg and a moderate mitral stenosis with a mean gradient 6–8 mmHg developed over the course of 2 years, as a normal TTE was performed at that time. During HD, the patient had longstanding alterations in calcium and phosphate metabolism including secondary hyperparathyroidism that eventually progressed into tertiary hyperparathyroidism. Efforts were made to treat CKD-MBD but patient compliance was low. Subtotal parathyroidectomy was performed 6 months prior to admission. The patient had dual mechanical valve replacement. Discussion Valvular calcification is common in patients with CKD/ESRD and in particular in patients on HD. Rapid progression of valve disease in this case may be related to the combination of low patient adherence and sustained disturbed calcium and phosphate metabolism with tertiary hyperparathyroidism. Transthoracic echocardiogram should be performed in patients on HD even with minor suspicion of VC and in patients with low adherence and disturbance of calcium and phosphate metabolism.