“Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”

Abstract

Primary hyperparathyroidism (PHPT) is a rare disorder in children and adolescents. Typical biochemical features are hypercalcemia and hypophosphatemia, but the clinical features can be heterogeneous, and in some cases, symptoms are vague and nonspecific, leading to misdiagnosis or late diagnosis. Herein, we report two cases of PHPT in pediatric age with different presenting symptoms, pain in the foot, and progressive alteration of the gait in the first case and recurrent abdominal pain with emotional lability in the second. Biochemical and radiological assessment confirmed PHPT. Both cases were treated surgically as definitive treatment, but in the second case, previous medical treatment with cinacalcet, a calcimimetic agent, was required to reduce serum PTH and calcium levels. After surgery, despite conventional treatment with calcium and calcitriol, case 1 developed a hungry bone syndrome. The analysis of the MEN-1 (Multiple Endocrine Neoplasia) gene was negative in both cases. A diagnosis of PHPT should be considered when children or adolescents present bone pain with radiological imaging of osteolytic lesion and biochemical feature of hypercalcemia associated with hypophosphatemia. In PHPT, the gold standard treatment is represented by surgery followed by strict postoperative endocrine monitoring to maintain adequate homeostasis of calcium and bone metabolism.

Primary hyperparathyroidism in a 14-year-old boy – a case report

“…PHPT can manifest with a variety of symptoms involving the gastrointestinal, musculoskeletal, renal and neurological systems, and at the onset of the disease, about 80% of children are found to have end organ damage, mainly bone and kidney. 7 Failure to measure at least the Ca concentration at the first signs of the disease may lead to inadequate and delayed diagnosis of the underlying disease and development of the symptomatic form, which may ultimately result in irreversible target organ involvement: bone destruction, urolithiasis, destruction of the urinary system secondary to urolithiasis, pancreatitis or gastric ulcer disease. 3 In addition to the well-known skeletal symptoms, PHPT can cause especially during growth spurt rare skeletal deformities such as genu valgum, subluxation of upper femoral epiphysis (SUFE) and epiphyseal displacement.…”

An Unusual Case of Vertigo in an Adolescent Female

“…Hypercalcemia in children and adolescents can present with gastrointestinal symptoms (anorexia, vomiting, abdominal pain, or constipation), neurological manifestations (drowsiness, dizziness, irritability, confusion, lethargy, and seizures), cardiac concerns (hypertension or arrhythmias), and renal complications (nephrocalcinosis, nephrolithiasis, or hematuria). [1][2][3][4] Once elevated serum calcium levels are found, it is important to determine the etiology. In this patient's case, there was a significant elevation in PTH levels, making primary hyperparathyroidism the most likely cause.…”

“…3 However, with this disease process, a defect in the parathyroid gland results in excessive PTH secretion despite high calcium levels, as the calcium sensing receptor (CaSR) gene has a mutation. 5,6 The majority of cases are due to parathyroid adenomas (roughly 90%), 1,4,6 although parathyroid hyperplasia can occur in approximately 10% of cases, and parathyroid carcinoma, although possible, is quite rare, found only in less than 1% of cases. 6 Primary hyperparathyroidism in children and adolescents is relatively uncommon, consisting of less than 5% of all cases.…”

Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience

“…In pediatrics, data are scarce, and to our knowledge, only 50 pediatric patients (including the 18 patients presented here) out of a total of almost 1,200 pediatric patients reported in the literature with PHPT, have been treated with cinacalcet, as summarized in Table 4 ( 15 , 16 , 21 – 25 , 27 – 30 , 32 , 33 , 35 – 37 , 40 , 43 – 45 ). The present study almost doubles the number of reported pediatric patients having received cinacalcet as an off-label drug for PHPT.…”

“…Cinacalcet was recently licensed in Europe in dialysis children above 3 years with secondary hyperparathyroidism due to end-stage kidney disease; European guidelines have delineated its use in this peculiar setting ( 14 ). Alternatively, the use of cinacalcet, as an off-label therapy in PHPT, has been reported only in few pediatric case reports and is considered to be a challenge in daily practice, because of the putative risk of hypocalcemia, increased QT interval and drug interactions ( 15 , 16 ).…”