Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) have significantly different treatment approaches, so physicians must be careful to differentiate these 2 diseases. Herein, we report a 14-year-old female who presented with symptomatic hypercalcemia (12 mg/dL; reference range, 9.2–10.7 mg/dL), elevated intact parathyroid hormone (iPTH) (236 pg/mL; reference range, 9–69 pg/mL), and vitamin D deficiency (6 ng/mL; reference range, ≥ 20 ng/mL). On numerous occasions, her 24-hour urine calcium was more than 4 mg/kg/day, consistent with PHPT, but her fractional excretion of calcium on 24-hour urine collection was consistently below 1%, in line with FHH. 99mTc-Sestamibi scan failed to detect any abnormalities. However, a 4-dimensional computed tomography scan of the neck revealed a right superior parathyroid adenoma which was excised with a focused parathyroidectomy. Although the patient’s calcium and iPTH levels normalized, her nonspecific symptoms persisted. This case illustrates both the challenges of differentiating PHPT from FHH and the limitations of a first-line imaging tool in identifying a parathyroid adenoma.
Abstract
Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) have significantly different treatment approaches, so physicians must be careful to differentiate these 2 diseases. Herein, we report a 14-year-old female who presented with symptomatic hypercalcemia (12 mg/dL; reference range, 9.2–10.7 mg/dL), elevated intact parathyroid hormone (iPTH) (236 pg/mL; reference range, 9–69 pg/mL), and vitamin D deficiency (6 ng/mL; reference range, ≥ 20 ng/mL). On numerous occasions, her 24-hour urine calcium was more than 4 mg/kg/day, consistent with PHPT, but her fractional excretion of calcium on 24-hour urine collection was consistently below 1%, in line with FHH. 99mTc-Sestamibi scan failed to detect any abnormalities. However, a 4-dimensional computed tomography scan of the neck revealed a right superior parathyroid adenoma which was excised with a focused parathyroidectomy. Although the patient’s calcium and iPTH levels normalized, her nonspecific symptoms persisted. This case illustrates both the challenges of differentiating PHPT from FHH and the limitations of a first-line imaging tool in identifying a parathyroid adenoma.
참고문헌 (9)
- Roizen J, Levine MA, "Primary hyperparathyroidism in children and adolescents", J Chin Med Assoc, 75, pp.425~434 (2012)
- Tosur M, "Incidental hypercalcemia caused by primary hyperparathyroidism with rapid progression to renal complications in a child", Clin Pediatr (Phila), 57, pp.117~120 (2018)
- Shinall MC Jr, "Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism", Endocr Pract, 19, pp.697~702 (2013)
- Bilezikian JP, "Summary statement from a workshop on asymptomatic primary hyperparathyroidism:a perspective for the 21st century", J Clin Endocrinol Metab, 87, pp.5353~5361 (2002)
- Christensen SE, "Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods", Clin Endocrinol (Oxf), 69, pp.713~720 (2008)
- Moosgaard B, "Vitamin D status, seasonal variations, parathyroid adenoma weight and bone mineral density in primary hyperparathyroidism", Clin Endocrinol (Oxf), 63, pp.506~513 (2005)
- Ruda JM, "A systematic review of the diagnosis and treatment of primary hyperpara-thyroidism from 1995 to 2003", Otolaryngol Head Neck Surg, 132, pp.359~372 (2005)
- Mortenson MM, "Parathyroid exploration in the reoperative neck: improved preoperative localization with 4D-computed tomography", J Am Coll Surg, 206, pp.888~895 (2008)
- Kunstman JW, "Clinical review: parathyroid localization and implications for clinical management", J Clin Endocrinol Metab, 98, pp.902~912 (2013)