Ca&Bone

[Hypophosphatasia]

MÉSZÁROS SZILVIA, GYŐRI Gabriella, MAGDICS Mária, LAKATOS Péter, HORVÁTH CSABA

FEBRUARY 20, 2003

Ca&Bone - 2003;6(01)

[INTRODUCTION - The authors describe a rare metabolic bone disorder causing a differencial diagnostic problem in a 44- year-old female patient. CASE REPORT - The patient has had a history of lower back and hip pain for 30 years, as a cause of which vitamin-D resistant rickets had been diagnosed and short-term vitamin-D therapy was applied several times. The laboratory tests of the patient (weight: 41 kg, hight: 142 cm) showed decreased levels of serum alkaline phosphatase and parathyroid hormone, normal serum calcium and ionized calcium, and an elevated phosphate concentration. On X-ray examination of the bones, calcified disci under the V. and XII. dorsal vertebrae, a pathologic curve of both femoral diaphyses and a Looser line among other degenerative changes were noted. CONCLUSION - The clinical, laboratory and radiological findings supported the authors’ diagnosis of hypophosphatasia. The clinical and diagnostic findings of hypophosphatasia may also be suggestive of hypoparathyreosis with consecutive disturbance of vitamin-D activation.The differenciation of the two disorders is essential for adequate treatment.]

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CSUPOR EMŐKE, TÓTH EDIT, MÉSZÁROS SZILVIA, FERENCZ VIKTÓRIA, SZŰCS János, LAKATOS Péter, HORÁNYI János, PERNER Ferenc, HORVÁTH CSABA

[INTRODUCTION - The majority of patients with primary hyperparathyroidism recurrently produce kidney stones, while the rest have other clinical manifestations (metabolic bone disease, acute pancreatitis, depression, etc.).The aim of this study was to examine whether there is any association between the clinical symptoms and the location of adenoma. PATIENTS AND METHODS - The records of 91 patients (10 males, 81 females, mean age: 61.9 years, range: 20-70 ys) operated for primary hyperparathyroidism between 1995 and 2000 were retrospectively evaluated. One patient was excluded from the study because of parathyroid cancer. Nephrolithiasis was noted in 55 cases and other clinical symptoms in 35 cases. The diagnosis of pHPT was confirmed by the surgery, which also determined the precise location of the adenoma. RESULTs - In the kidney stone group, the adenoma was located in the left inferior parathyroid gland in 50 cases (91 %), (χ2=67.5, p<0,00001), in the left superior parathyroid gland in 2 patients, while in 3 patients multiple hyperplasia was found. In the group without nephrolithiasis the adenoma was located in the right inferior parathyroid gland in 24 patients (69 %), (χ2=43.9, p<0,0001), while in 3 patients each it was detected in the left and right superior parathyroid gland, respectively. Multiple hyperplasia was also observed in 3 patients and ectopic location in 2 patients. CONCLUSION - The results raise the possibility that the clinical manifestation of the pHPT, i.e., whether it is or is not accompanied with nephrolithiasis, may be influenced by the location of the adenoma.This suggests that either the biological effects of the parathyroid hormone or its biologically active hormone fragments are different according to in which of the four glands it is produced.Therefore, we recommend that in patients with kidney stones where the preoperative imaging fails to reveal the location of the adenoma, during surgery the search for the adenoma should be started at the left inferior parathyroid gland.]

Ca&Bone

[Dear Colleagues and Readers!]

HORVÁTH CSABA

Ca&Bone

[7th Congress of OROM]

SOMOGYI Péter

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