- A Case of Familial Hypocalciuric Hypercalcemia Coexisting with Low Bone Mass.
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Sung Wan Chun, Se Hwa Kim, Jong Yul Jung, Won Na Suh, Ji Ae Moon, Jong In Yook, Yoon Sok Chung, Yumie Rhee, Eun Jig Lee, Sung Kil Lim
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J Korean Endocr Soc. 2006;21(6):583-588. Published online December 1, 2006
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DOI: https://doi.org/10.3803/jkes.2006.21.6.583
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- Familial hypocalciuric hypercalcemia is caused by heterozygous loss-of-function mutation of the calcium sensing receptor gene, and this is characterized by mild, persistently elevated levels of serum calcium without symptoms or complications. We present a case of clinically diagnosed familial hypocalciuric hypercalcemia with unexpected low bone mass. A 19-year-old man presented with incidentally discovered hypercalcemia. He showed normal growth and sexual maturation. Biochemical studies showed hypercalcemia, increased parathyroid hormone, hypocalciuria, a decreased urinary calcium-creatinine ratio and decreased serum 25-hydroxy-vitamin D. The other hormonal studies were normal. Dual energy x-ray absorptiometry showed low bone mineral density, and the Sestamibi scan showed no abnormality in the parathyroid glands. Iliac bone biopsy showed a general decrease in bone density and increased porosity of the cortical bone. Normal mineralization was also shown, but in part, osteoid deposition was also found. Direct sequencing of the patient's calcium sensing receptor gene showed a point mutation at exon7, Q926R.
- A Case of Osteosarcoma induced Oncogenic Osteomalacia Detected by MRI.
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Sung Kil Lim, Young Duk Song, Hyun Chul Lee, Kap Bum Huh, Ki Hyun Park, Kyung Rae Kim, Soon Won Hong, Jae Hyun Nam, Jong In Yook, Byung Joo Choi, Mi Kyung Kim, Kyu Ho Shin
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J Korean Endocr Soc. 1999;14(2):401-409. Published online January 1, 2001
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- Oncogenic osteomalacia is a syndrome characterized by phosphaturia, hypophosphatemia, decreased 1,25-dihydroxyvitamin D level and specific signs and symptoms of osteomalacia. It is associated with the presence of neoplasm originated from mesenchyme. Until now, less than 100 cases of oncogenic osteomalacia have been reported. The pathophysiology of oncogenic osteomalacia has not been fully understood, but it has been suggested that a certain substance released by tumor may inhibit not only la-hydroxylase activity and reduce 1,25-dihydroxyvitamin D level in part, but directly inhibit reabsorption of phosphate. And then, reduced phosphaturia, hypophosphatemia and eventually osteomalacia develop. We report a case of osteosarcoma induced oncogenic osteomalacia detected by MRI in 59 year old woman.
- Anabolic Effects of Recombinant Human Parathyroid Hormone (1-84) on Bone Histomorphometry in Overiectomized Rats.
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Young Jun Won, Du Hong Park, Jae Hyun Nam, Jong In Yook, Jin Kim, Kyung Rae Kim, Hyun Chul Lee, Kap Bum Huh, Sung Kil Lim
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J Korean Endocr Soc. 1999;14(1):81-90. Published online January 1, 2001
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- To evaluate the anabolic effects of human recombinant parathyroid hormone [hrPTH(1-84)], we examined effect of low-dose and high-dose of [hrPTH(1-84)] and estradiol on bone histomorphometry in ovariectomized rats. Sixty Sprague-Dawley female rats aged 8~10 weeks were used. Eight weeks after ovariectomy, or sham operation, rats were given daily sc injection of hrPTH (1-84), 30 pg/kg (OVX+L group), 150 pg/kg (OVX+H group), 17-estradiol (30 pg/kg, OVX+E group) or vehicle (OVX+V group) for 4 weeks. After double tetracycline labeling, all rats were killed at day 84. We completed the histomorphometric analysis of distal femoral metaphyseal cancellous bone for trabecular bone volume (TBV), mean trabecular plate thickness (MTPT), mean trabecular plate density (MTPD), mean trabecular plate separation (MTPS), mean osteoid seam width (OSW) and appositional rate (AR). The histomorphometric parameters (TBV, MTPT, OSW and AR) of trabecular bone mass in (OVX+E) group were higher than those in (OVX+V) group. The TBV of trabecular bone in PTH treated groups were higher than that in sham operated, (OVX+V) and (OVX+E) group. The histomorphometric parameters (TBV, MTPD, OSW and AR) of trabecular bone mass in (OVX+H) group showed a tendency to be higher than those in (OVX+L) group, but statistically not significant. In conclusion, Low dose (30 mg/kg) hrPTH (1-84) also shows a sufficient anabolic effect on trabecular bone.
- A Case of Adult Fanconi Syndrome with Hypophosphatemic Osteomalacia.
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Ji Hyun Lee, Young Sup Byun, Bong Soo Cha, Moon Suk Nam, Young Duk Song, Sung Kil Lim, Kyung Rae Kim, Hyun Chul Lee, Kap Bum Huh, Jin Kim, Jong In Yook
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J Korean Endocr Soc. 1996;11(1):93-101. Published online November 7, 2019
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- The Fanconi syndrome is characterized by generalized disturbance of tubular function. It leads to excessive losses of amino acids, glucose, phosphate, bicarbonate, and other organic and inorganic substrates handled by the proximal tubules. The metabolic consequences are acidosis, hypophosphatemia, hypocalemia, dehydration, rickets, osteomalacia, osteoporosis, and growth retardation. This syndrome may either be congenital or acquired, primary or secondary. Acquired Fanconi syndrome may result from multiple myeloma, Wilsons disease, primary amyloidosis, light chain nephropathy, and heavy metal poisoning such as lead, mercury, and cadmium. A 33-year-old female presented with multiple bone pain, and progressive proximal muscle weakness for 15 months. The blood urea nitrogen, creatinine, calcium, phosphate, and uric acid were 12.1 mg/dL, 1.5 mg/dL, 8.4 mg/dL, 1.8 mg/dL, and 1.7 mg/dL, respectively. The urine volume, protein, calcium, phosphate, and creatinine clearance were 2,330 ml, 343.7 mg, 146 mg, 424 mg, and 44.6 ml/min, respectively in 24 hour collection urine study. The tubular reabsorption rate of phosphate was decreased. In arterial blood gas analysis study, pH was 7.348, bicarbonate was 17.6 mmol/L, which means metabolic acidosis. In chest X-ray, fracture was seen in eighth and ninth left ribs. The whole body bone scan revealed hot uptake at both first and second ribs, right third rib, both eighth and ninth ribs, left sacroiliac joint and right hip joint. Bone densitometry showed moderate osteopenia in spine and femur neck. After NE4Cl loading, the urine pH was decreased below 5.0 at two and third hour, which means proximal renal tubular acidosis. Amino acid such as, hydroxyproline, threonine, serine, asparagine, glutamine excreted much more than normal in 24 hour urine. Bone biopsy showed the presence of increased osteoid volume and osteoid seam width and marked decreased mineral appositional rate as evidence for osteomalacia. The patients symptoms, including bone pain and proximal muscle weakness, were relieved after supplement of calcitonin, Vitamin D and calcium carbonate. We report a case of Fanconi syndrome with hypophosphatemic osteomalacia with brief review of literature.
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