Abstracts of the Eighth Annual Meeting of the Japanese Society for Bone Metabolism Research

s of the Eighth Annual Meeting of the Japanese Society for Bone Metabolism Research Rickets and 0steomalaeia 1. Treatment of Vitamin D-Resistant Rickets (VDRR) until Completion of Growth Seizo Yoshikawa and Hideto Machida (Department of Orthopaedic Surgery, Tokyo University Branch Hospital, Tokyo) A girl with VDRR treated with large doses of VD between ages of 2 and 17 years is reported with discussion on several problems. The daily doses of VD necessary to maintain a healed state increased from initial 400 000 units to 800 000 units during her growth period. The bowleg deformity which was spontaneously corrected in her childhood reappeared during her adolescent growth period, probably due to inadequate control of treatment, necessitating osteotomy at age 13. At age 14, symptoms of nephrohthiasis appeared and nephrolithotomy was performed. Histological sections of excised kidney tissue revealed normal glomerulus with neither interstitial inflammatory changes nor diffuse calcification. With careful control, continuous treatment with large doses of VD is relatively safe, resulting in a good correction of deformity. 2. A Case of Adult Fanconi Syndrome Sumiaki Okamoto, Shoichi Akazawa, Toshitaka Usa, Renju Maeda, and Yoshito Takaoka (The First Department of Internal Medicine, School of Medicine, Nagasaki University, Nagasaki) A case of adult Fanconi Syndrome, a relatively rare disorder, is reported. A 40-year-old male was first seen in 1973 with a three year history of increasing muscular weakness and decrease in height. The patient became unable to walk without support. He had persistent renal glycosuria, amino-aeidouria and hypophosphatemia. His family history was unremarkable. X-ray examination revealed generalized osteomalacia with multiple pseudofractures. After massive administration of vitamin D~ and D a, gait disturbance was improved. All tests searching for an etiology, such as heavy metal or tetracycline poisoning, Wilson's disease, myeloma or other renal diseases, showed no abnormality. Except for renal tubular reabsorption defects, general renal function was good. Parathyroid function, including serum parathyroid hormone level, was normal. Urinary excretion of cyclic AMP in response to parathyroid hormone was normal. Intestinal absorption 5 Calcif. Tics. Res. 230 Abstracts of the Eighth Annual Meeting of the Japanese Society of 47Ca was markedly decreased and improved little with massive vitamin D2, suggesting a disorder of vitamin D metabolism in addition to partial renal tubular dysfunction. 3. Axial 0steomalaeia Hideaki Takahashi, Kyozo Yanagi, Yutaka, Togawa, and Toshiyuki Konno (Niigata University School of Medicine Department of Orthopedic Surgery) Hiromiehi Norimatsu (Niigata Hamagumi Cripple Children Hospital) A 38-year-old male was referred because of abnormal X-ray finding of the spine after a rear-end collision. He had occasional episodes of low back pain since the age of 19 years and had dysesthesia of both shoulder girdles and upper extremities since the time of the accident, 6 months previously. Physical examination was essentially negative except for mild obesity. Laboratory data showed calcium 4.6 mEq/1, inorganic phosphorus 3.3 mg/dl, and alkaline phosphatase 7.1 K. A. u. (mean of 6 determinations). CBC, urinalysis, serum and urinary electrolytes were normal. Culture of mid-stream urine was negative for bacteria and pH was 5.5. Renal and liver function tests and 131I triolein absorption test were within normal limits. Percent TRP was normal and serum PTH was 0.1 ng]ml. X-ray of chest, GI series, tubeless hypotonie duodenography, and IVP were normal. X-ray of spines, particularly in lumbar spine, ribs and pelvis sowed trabeeular coarsening and spongelike textures, but normal in appendieular skeletons. The 1 l th rib biopsy revealed increased number of osteons (M:4.97/mm 2) with wide osteoid seam (thickness=28.4 ~z). Tetracycline was administered twice, but only a single band was found. Based on the X-ray findings, normal blood chemistry and histological findings of osteomalacia, diagnosis of axial osteomalacia was made. After 10 months of oral treatment with vitamin D, the low back pain improved considerably, but the X-ray findings were unchanged. 4. The Effects of Anticonvulsants Administration on Skeletal System. Clinical and Experimental Studies Masao Eguehi, Yoichi Sugioka, Nobuhiro Kaibara, Shiro Abe, Shuniehi Marui, Masataka Esaki, and Kenro Omiya (Department of Orthopaedic Surgery, Faculty of Medicine, Kyushu University, Fukuoka) An l 1-year-old girl receiving diphenylhydantoin, primidone and pheneturid for 10 years had developed florid rickets and was subsequently cured by vitamin D therapy. The concentrations of serum calcium, phosphorus, alkaline phosphatase and the radiologic findings of bone were compared in 52 epileptics with anticonvulsants Abstracts of the Eighth Annual Meeting of the Japanese Society 231s of the Eighth Annual Meeting of the Japanese Society 231 therapy and 73 normal controls. There was little difference between the epileptic group and the normal group. No evidence of rickets was noted. Radiologic evaluation, serum biochemical analysis and histological studies were performed in Sprague-Dawley rats fed by normal diets with and without diphenylhydantoin and primidone for 60 days. No difference was again noted between the two groups. No rickets were induced in rats by this procedure. 5. On Vitamin Requirement in Vitamin D Dependency; A Wide Clinical Spectrum Yutaka Tsuchiya and Michio Kumagai (Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Hospital, Tokyo) Nobutake Matsuo and Atsushi Yasaka (Department of Pediatrics, Keio Univ., School of Medicine, Tokyo) Three cases of vi tamin D dependency were reported. Case ~ 1, age 1.7/12 y/o c~ and case # 2 , age 1.10/12 y/o ~, both with florid rickets, were treated successfully with vi tamin D 1.6 • 10 s units over 7 months and 3.0 • 106 units over 6 months respectively. Serum chemistry and bone radiology were maintained normal in both patients while on 1.0-1.5 • 104 units/day and 5-10 • 104 units/day. Case # 3, age 5.9/12 y/o 9, received l0 s units of vi tamin D over 7 months without any improvement. Her rickets began to improve when she had received 6.4 • t0 s units over 18 months. She is currently receiving a daily dose of 2 • 106 units. The possibility of association of hypoparathyroidism in case # 3 may be ruled out by increased urinary cyclic AMP excretion, high P E I and low urinary calcium excretion in the presence of nearly normal serum calcium. We stress tha t there is wide individual variation in vi tamin D requirement for t rea tment of v i tamin D dependency. 6. A Case of Vitamin D-Dependent Rickets Toyoshi Tsuruta and Hitoshi Kamiya (Department of Orthopaedic Surgery and Paediatries, Mie University School of Medicine, Tsu) A boy born in November 1967 as the second child of non-consanguineous, healthy parents after an elder brother under normal growth was diagnosed as rickets on the basis of radiograph taken to detect congenital dislocation of the hip at the age of 3 months. On admission, a rickety rosary was present and radiographs of the skeleton showed generalized rarefaction of bones with fuzzy, cupped epiphyses. The serum calcium and phosphorus were low and alkaline phosphatase level strongly elevated; unlike the parents and the elder brother, all of whom gave normal values. Initially he was treated with intramuscular injections of vi tamin D e without improvement. Then the dose of vi tamin D 2 was increased to 500 000 IU/ day orally, and marked improvement was rapidly achieved. Subsequently, when 232 Abstracts of the Eighth Annual Meeting of the Japanese Society the dose of vitamin D 2 w a s decreased, recurrence of symptoms occurred gradually. Since that time high dose of vitamin D~ (100000-200000 IU/day) has been continued. The boy is now six and half years old, and able to join in play with other children. The diagnosis of "hereditary pseudo-vitamin D deficiency rickets" is suggested. 7. A Case of Cronkhite-Canada's Syndrome Associated with Hypoealcemia and 0steomalacic Change Nobuo Tsurumi, Koichi Shimizu, Yoshiki Numazawa, Michio Kiyokawa, u taka Sane, and ttideyo Katsunuma (Department of Geriatric Medicine, Tokyo Medical College, Tokyo) At the age of 49, in September 1970, a patient showed diarrhoea, alopetia, loss of nails, skin pigmentation and edema on the face : Diagnosis of Cronkhite-Canada's syndrome was made, but she responded poorly to treatment. Subtotal colostomy was performed. In March, 1973, she was admitted to the Tokyo Medical College Hospital because of weakness, anemia and hypoproteinemia. On admission, physical examination revealed an undernourished woman with pale mucous membranes and pigmentation of skin. There was slight edema on both legs and right knee joint pain. X-Ray findings of gastro-intestinal tract showed numerous fine polypoid filling defect in the stomach, intestine and colon. Looser zone was noted in the area of right hip joint. Laboratory findings revealed moderate anemia, hypoproteinemia, hypocaleemia (2.4 mEq/1) with low serum phosphorus (0.8 mg/dl) and high serum level of PTH (1.8 mg/ml), suggesting secondary hyperparathyroidism; *TCa infusion investigation showed rapid disappearance rate of 47Ca radioactivtiy followed by increased 47Ca excretion into urine (4.4 %) and stool (18.4%). These result the loss of calcium through the digestive tracts leading to hypocalcemia.