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저인산염혈증 골연화증을 동반한 성인형 Fanconi증후군 1예

Other Titles
 A Case of Adult Fanconi Syndrome with Hypophosphatemic Osteomalacia 
 이지현  ;  변영섭  ;  차봉수  ;  남문석  ;  송영득  ;  임승길  ;  김경래 
 Journal of Korea Society of Endocrinology (대한내분비학회지), Vol.11(1) : 93-101, 1996-01 
Journal Title
Journal of Korea Society of Endocrinology(대한내분비학회지)
Issue Date
Adult Fanconi syndrome ; Bone biopsy
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, Wilson´s 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, 24 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 NH₄Cl 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 patient´s symptoms, including bone pain and proximal muscle weakness, were relieved after supplement of calcitonin, Vitamin C and calcium cerbonate.
We report a case of Fanconi syndrome with hypophosphatemic osteomalacia with brief review of literature
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Pathology (구강병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Jin(김진)
Yook, Jong In(육종인) ORCID logo https://orcid.org/0000-0002-7318-6112
Lee, Hyun Chul(이현철)
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