• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.665-668
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• 2005

"Rickets" is the term applied to impaired mineralization at epiphyseal growth plate, resulting in deformity and impaired linear growth of long bones. Rickets may arise as a result of vitamin D deficiency or abnormality in metabolism. Vitamin D-dependent rickets(VDDR) is rare autosomal recessive disorder in which affected individuals have clinical features of vitamin D deficiency. In 1961, Prader first described this disorder including severe clinical features of rickets, such as hypophosphatemia, hypocalcemia, muscle weakness and seizure. Two distinctive hereditary defects, type I VDDR and type II VDDR have been recognized in vitamin D metabolism. Type I VDDR may be due to congenital defects of renal 1 ${\alpha}$-hydroxylase, the enzyme responsible for conversion of $25(OH)D_3$. These patients have low to detectable $1,25(OH)_2D_3$ in presence of normal to raised $25(OH)D_3$. In type II VDDR, renal production of $1,25(OH)_2D_3$ is intact but $1,25(OH)_2D_3$ is not used effectively and target organ resistant to $1,25(OH)_2D_3$ is respectively derived from the abnormality in the vitamin D receptor. We report a case of a 25 month-old girl with typical clinical features of VDDR type I rickets, hypocalcemia, increased alkaline phosphatase and secondary hyperparathyroidism.

• The Korean Journal of Nuclear Medicine
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• v.33 no.4
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• pp.368-380
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• 1999

Purpose: The purpose of this study was to evaluate and compare the scintigraphic findings and diagnostic accuracy of double-phase Tc-99m sestamibi scan in primary and secondary hyperparathyroidism (HPT). Materials and Methods: We retrospectively reviewed 16 cases of primary (18 lesions) and 11 cases of secondary HPT (44 lesions) who underwent Tc-99m-sestamibi scan before the surgical intervention. Scan was performed using LEM camera (Siemens, Germany) after the injection of 740MBq of Tc-99m sestamibi. Routine image consisted of baseline and 3-hour delayed images and each image was obtained using both parallel and pine hole collimator. The study population was 27 patients (male/female=5/22, age: $49.1{\pm}10.8$). Results: Eighteen lesions of primary HPT consisted of 13 adenomas and S hyperplasias, while all lesions of secondary HPT were hyperplasias. Among the case of primary HPT, we could detect all the lesions of 13 adenomas but only 2 lesions of 5 hyperplasias (40%) could be detected by double phase scintigraphy. Three cases of primary lesion showed decreased uptake in delayed images compared with baseline. The sensitivity, specificity, positive predictive value and accuracy of primary and secondary HPT were 58.8% (10/17), 83.3% (10/12), 83.3% (10/12), 75.9% (22/29), and 37.5% (15/40), 50% (2/4), 88.2% (15/17), 38.6% (17/44), respectively. Overall sensitivity, specificity, positive predictive value and accuracy were 43.9% (25/57), 75% (12/16), 86.2% (25/29), and 53.4% (39/73). There were no statistical difference between the weight of primary and secondary HPT lesion (p>0.05). Conclusion: Tc-99m sestamibi scan is fairly good modality to detect parathyroid lesion in patient with primary HPT before the surgical intervention. However, since some of cases may reveal decreased uptake in delayed image, a careful attention to the findings of baseline images may be helpful. Still the low accuracy of sestamibi scan in diagnosis of secondary HPT prohibits routine use of it for this disease.

• Clinics in Shoulder and Elbow
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• v.12 no.1
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• pp.84-88
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• 2009

Purpose: Calcium pyrophosphate dihydrate crystal deposition disease(CPPD) is a disease of the elderly and extremely rare in young individuals. If young people develop CPPD crystal deposition disease, it may be associated with metabolic diseases, such as hemochromatosis, hyperparathyroidism, hypophosphatasia, hypomagnesemia, Wilson's disease, hypothyroidism, and gout. Materials and Methods: Therefore, in young-onset CPPD crystal deposition disease, an investigation of any predisposing metabolic conditions is warranted. Conclusion: We report a case of a young female patient who presented with idiopathic CPPD crystal deposition disease at 25 years of age.

• Korean Journal of Head & Neck Oncology
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• v.25 no.2
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• pp.138-142
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• 2009

Introduction : Although bilateral exploration has been thought to be the standard therapeutic modality for primary hyperparathyroidism(pHPT) due to the admirable cure rate, questions have remained as to whether bilateral neck exploration for all patients with pHPT is needed because 80-85% of patients with pHPT have a single parathyroid adenoma. If the diseased parathyroid can be determined preoperatively, a directed and minimal operation is appropriate using the recent innovations of preoperative diagnosis and operation techniques for parathyroid diseases, the radio-guided parathyroid surgery(RGPS) is one of the standards. In especial, RGPS has been reported beneficial in special circumstances, such as in recurrent disease, ectopic parathyroid, and in mediastinal parathyroid. It can be also useful for the parathyroid disease in previously explored or irradiated neck. Material and Methods : We experienced 2 cases of pHPT successfully treated by RGPS in who previously underwent extensive neck dissection and concomitant external or internal radiotherapy. We adopted and modified the technique described by Dr. James Norman at the University of South Florida-the minimally invasive parathyroidectomy using intraoperative nuclear mapping with 99mTc-sestamibi scanning and radioactivity detection probe. Results : We acquired the successful results for these patients. Conclusion : RGPS is thought to be the alternative technique for the patients with prior central neck exploration and irradiation.

• Korean Journal of Head & Neck Oncology
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• v.14 no.2
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• pp.206-213
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• 1998

Primary hyperparathyroidism is still uncommomn disease in Korea. However the frequency of this disease has been slowly increased with routine measurement of serum calcium and increasing awareness of hyperparathyroidism in recent years. The diagnosis is established by a persistent elevation of serum calcium and parathyroid hormone and by clinical evaluation. This is a report of eleven patients with primary hyperparathyroidism treated with surgical operation during a period from 1983 to 1997 at Department of Hospital. Authors analyzed the cases to evaluate clinical characteristics and outcome of surgical treatment retrospectively. The result was as follows. 1) In sex distribution, female patients were eight and three were male, the age distribution ranged from 18 to 67 years. 2) The presenting clinical manifestations were renal and urinary stone in eight, bone pain or fracture in six, muscle weakness in four, neurologic symptoms in four, neck mass in three, hypertension in two, and G-I symptoms in one. 3) All patients showed hypercalcemia and elevated serum parathyroid hormone level. 4) Preoperative localization study was performed with computerized tomography, ultrasonography, MRI, arteriography and thyroid scaning. 5) The tumor locations were left lower in eight, left upper in one, right lower in one, and right upper location was one case. 6) Histopathologic findings disclosed adenoma in all cases. 7) All patients were treated by surgical excision and postoperatively transient hypocalcemia occurred in six patients, but no other complication was developed.

• Childhood Kidney Diseases
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• v.13 no.2
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• pp.176-188
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• 2009

Purpose : Peritoneal dialysis (PD) is the major form of dialysis in use for infants and children with end-stage renal disease (ESRD). The aim of this study was to gain insight into the current status of children on PD in Korea. Methods : In May 2008, questionnaires were sent to the pediatric nephrologists via e-mail. Four centers replied and those data were reviewed. Results : A total of 103 patients were included in this study. Male to female ratio was 1.6:1. Mean age was $11.5{\pm}4.9$ years (0-19 years). Primary renal diseases diagnosed were as follows: primary glomerular disease (34%), chronic pyelonephritis-reflux nephropathy (14.6%), systemic disease (9.7%), renal hypoplasia/dysplasia (8.7%), heredofamilial disease (6.8%), vascular disease (3.9%), drug-induced nephropathy (1.0%), and unknown (12.6%). PD modalities were as follows: CAPD (42.7%), CCPD (27.2%), NIPD (11.7%), and Hybrid (18.4%). Weekly total Kt/V was $2.1{\pm}0.7$ (0.3-4.1). Results of peritoneal equilibrium test were as follows: low 36.8%, low average 31.6%, high average 19.7%, and high 11.8%. Z-score for weight was $-1.00{\pm}1.20$ (-4.54~+2.50). Z-score for height was $-1.55{\pm}1.65$ (-9.42~+1.87). Growth hormone was administered in 24.3% of patients. Anti-hypertensive drugs were administered in 64.0% of patients. Laboratory findings were as follows: hemoglobin $10.5{\pm}1.4$ g/dL, calcium $9.7{\pm}0.7$ mg/dL, phosphorus $5.4{\pm}1.4$ mg/dL, and parathyroid hormone $324.2{\pm}342.8$ pg/mL. Conclusion : Primary glomerular disease was the most common cause of ESRD. CAPD was the most prevalent PD modality. Low and low average peritoneal transport type were common. Growth disturbance were noted in many patients. Some patients had hypertension even with anti- hypertensive drugs. Calcium-phosphorus levels were maintained adequately, but many patients had secondary hyperparathyroidism.

• Korean Journal of Head & Neck Oncology
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• v.17 no.2
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• pp.205-209
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• 2001

Purpose: Most cases of primary hyperparathyroidism are due to parathyroid adenoma or parathyroid hyperplasia. Parathyroid carcinoma is a very rare cause of hyperparathyroidism. Although the diagnosis of parathyroid carcinoma is usually established by pathologic criteria especially of vascular or capsular invasion, some clinical and biochemical features differentiate it from benign forms of hyperparathyroidism. We under-took a retrospective study in 6 patients with parathyroid carcinoma, with the aim of conveying experience from management for this rare cause of hyperparathyroidism. Methods: Clinical symptoms, biochemical laboratory, radiologic, and intraoperative findings, local recurrence and distant metastasis were analyzed in 6 patients diagnosed pathologically as a parathyroid carcinoma after operation from 1992 to 2001. Results: Mean age was 50.2 years (33.0-60.0 years) and male to female ratio was 1:1. Neck mass was found in 5 patients, multiple bone pain in 3 patients and renal stone in 1 patient. One case has suffered from chronic renal failure for 19 years. Although preoperative laboratory evaluations showed the aspects of hyperparathyroidism in all cases, mean serum calcium level was 11.2mg/dl(10.5-12.1mg/dl), slightly elevated. Laboratory values after surgery were within the normal range in 5 cases. However, in one case with chronic renal failure, serum PTH levels, serially checked, were above the normal range. Any of imaging methods failed to suggest a parathyroid carcinoma preoperatively. Parathyroid adenoma was suspected in 3 cases, thyroid cancer in the other cases before surgery. The extent of resection was radical resection of parathyroid lesion with more than unilateral thyroid lobectomy and central compartment neck node dissection and in 2 cases, the resection of recurrent laryngeal nerve or strap muscles was added. During follow-up period, any local or systemic recurrence were not evident in all the cases. Conclusion: Although parathyroid carcinoma is a rare disease and its preoperative diagnosis, in our experience, could not easily be made, the understanding of characteristic clinical and biochemical feature could help diagnosis at first surgery. Radical resection without remaining residual tumor is most important for the management of the parathyroid cancer.

• The Korean Journal of Nuclear Medicine
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• v.24 no.2
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• pp.299-306
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• 1990

골 신티그라피에서 신장이 희미하게 보이거나 전혀 안보이게 되는(이하 신장 영상 비출현이라 함) 원인 질환을 파악하고, 또 골 신티그라피에서 골전이가 발견된 여러 악성종양에서 신장 영상 비출현의 빈도 및 신장 영상 비출현의 소견을 보이는 여러 악성종양의 골전이 범위를 관찰하기 위하여, 서울대학교 병원에서 최근 6년간 시행한 골 신티그람 중 신장 영상 비출현의 소견을 보이는 889개를 재검토하였다. 신장영상 비출현의 원인 질환으로는 신부전이 대부분을 차지하였으나(816/889 : 91.8%), 신장 질환이 없는 경우에서는 광범위한 골전이가 가장 많았으며 (53/889 : 6.0%), 그 원발부위는 전립선암 (19/53 : 35.8%), 위암(14/53 : 26.4%), 유방암(5/53 : 9.4%), 폐암(4/53 : 7.5%) 신세포암(2/53 : 3.8%), 방광암(1/53 : 1.9%), 원발부위 미상(8/53 : 15.1%)으로 전립선암과 위암이 가장 많았다. 특히 강직성 척추염 4예, 류마토이드 관절염 3예, 성인형의 골화석증 1예에서 신장 영상 비출현의 소견을 보여 이채로왔으며, 이 밖에 원발성 부갑상선 기능항진증 및 그레이브스병이 각 1예씩 있었으며 원인을 알 수 없는 경우가 10예 있었다. 전립선암 140예중 골 신티그라피에서 골전이가 발견된 예는 108예(77.1%), 이중 신장 영상 비출현의 소견을 보이는 예는 19예(19/108, 17 6%)이었으며, 위암에서는 각각 328예, 162예(49.4%), 14예 (8.6%), 유방암에서는 각각 1754예, 730예 (41.6%), 5예(0.7%), 폐암에서는 각각 1105예, 596예(53.9%), 4예(0.7%), 방광암에서는 각각 247예, 110예(44.5%), 1예(0.9%)로 전립선암에서 신장 영상 비출현의 빈도가 가장 높았으며, 특히 위암에서 골전이 및 신장 영상 비출현의 빈도가 높아 주목되었다. 골전이 및 신장 영상 비출현의 소견을 보이는 악성종양 환자의 골 신티그람 53개중 44개 (83.0%)에서 척추 및 늑골에 미만성, 또는 다발성 침습이 관찰되었다. 또 골전이 부위를 두개골, 척추, 견대부, 늑골, 골반, 사지의 근위부 장골의 6개 부위로 나누어 분석할 경우 49개(92.5%)에서 3부위 이상에 전이가 발견되었고, 35개(66.0%)에서 4부위 이상에 전이가 발견되었으며, 5부위 이상, 6개 부위에 모두 전이가 발견된 것은 각각 20개 (37 7%), 11개(20.8%)이었다. 이상의 성적으로 보아 악성종양 환자의 골 신피그라피에서 신장 영상의 비출현은 종양의 광범위한 골전이를 간접적으로 시사하는 소견으로 생각된다. 여러 악성종양중 전립선암에서 신장 영상 비출현의 빈도가 가장 높았으며, 특히 위암에서 골전이 및 신장 영상 비출현의 빈도가 높음은 주목할 만한 것이라 하겠다.

• Tuberculosis and Respiratory Diseases
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• v.47 no.4
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• pp.525-532
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• 1999

The parathyroid hormone related protein (PTHrP) is the most common causative peptide of humoral hypercalcemia of malignancy. In contrast, the serum level of parathyroid hormone (PTH) is low to undetectable in the majority of patients with malignancy associated hypercalcemia. Few cases exist in which the production and secretion of PTH by malignant nonparathyroid tumors have been authenticated. To our knowledge, there is very rare case in which a nonparathyroid tumor expressed simultaneously both the PTH and PTHrP. We report a case of squamous cell carcinoma of the lung with hypercalcemia which presented with simultaneous elevation of serum PTH and PTHrP. Severe hypercalcemia (serum calcium, 7.5 mEq/L) was found in a 65-year-old man who had a squamous cell carcinoma of the lung without any bony metastasis and detectable parathyroid abnormalities on isotope scintigraphy. The serum level of intact parathyroid hormone (PTH) con centration was markedly elevated as measured in two site radioimmunoreactive PTH assays (intact PTH 150 pg/mL ; normal 9~55). The serum level of a PTHrP was also increased as measured in C-terminal region specific radioimmunoassay (PTHrP 99.1 pmol/L; normal 13.8~55.3). There are no evidences of coincidental primary hyperparathyroidism in parathyroid MIBI scan and other imaging studies including neck ultrasonography and computed tomography. These results suggest that simultaneous elevation of serum PTH and PTHrP in this patient can be caused by production of both PTHrP and PTH in other nonparathyroid lesions such as squamous cell carcinoma.