Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of an 11-year-old child with delayed development who developed signs of exercise-induced pain in the lower limb muscles after an acute attack of appendicitis. He had difficulty standing up from the sitting position and ascending and descending stairs. The physical examination revealed increased reflex activity in the lower limbs. Initially, blood tests, MRI and EMG were normal. Serum phosphorus and calcium were not assayed. Eight months later, the boy's condition worsened (myopathy gait, hyperlordosis) leading to the possible diagnosis of muscle disease. After muscle biopsy, blood tests revealed hypercalcemia at 3.5 mmol/l (normal 2.2-2.6), hypercalciuria, and hypophosporemia. The diagnosis of primary hyperparathyroidism was confirmed by the abnormal level of parathormone initially (19 ng/ml) and later (156 ng/ml) with hypercalcemia. Medical treatment failed and surgery was performed to remove three and a half parathyroid glands. After removal, blood tests returned to normal in six days and the physical examination in three years. The diagnosis of principal cell hyperplasia was retained at the pathology examination. We found no evidence of hypercalcemia or other endocrinopathy such as multiple endocrine neoplasia (MEN 1 or 2a). Study of the menine gene did not reveal any mutation. Muscle dysfunction suggest possible abnormal phosphocalcium regulation. A normal parathormone level with hypercalcemia reveals inappropriate synthesis and secretion.
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PMID:[Primary hyperparathyroidism revealed by pseudomyopathia]. 1595 13

Some neoplastic polyendocrine syndromes may affect the kidney. These include multiple endocrine neoplasia type 1 and 2 (MEN 1, MEN 2) as well as mixed syndromes characterized by endocrine and non-endocrine diseases. Kidney involvement may be related to secondary systemic hypertension or diabetes mellitus, direct hormonal effects, and benign or malignant kidney tumors or kidney malformations (very rare). Neoplastic polyendocrine syndromes are rare and it is important that the endocrinologist knows the possible renal complications or associated diseases for correct screening, and that the nephrologist is aware of the need for endocrinological assessment in young hypertensive patients who are resistant to therapy, hypertensive patients with adrenal lesions, and patients with hypercalciuria or renal calculi, especially at a young age.
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PMID:[Neoplastic polyendocrine syndromes and the kidney]. 2092 4