Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient is described with neurofibromatosis, increasing walking problems and low back pain. Initially, osteoporosis or pressure caused by a neurofibroma was suspected. However, the progressively increasing alkaline phosphatase activity and hypophosphataemia found during laboratory investigations led to metabolic studies which revealed proximal tubular dysfunction. A bone biopsy showed severe osteomalacia. A diagnosis of hypophosphataemic osteomalacia was made based on the Fanconi-syndrome. The association between hypophosphataemic osteomalacia and neurofibromatosis may be akin to the relationship between this type of osteomalacia and mesenchymal tumours, which has been noticed several times in the literature. The underlying mechanism is unknown.
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PMID:Adult hypophosphataemic osteomalacia with Fanconi syndrome presenting in a patient with neurofibromatosis. 251 47

35 intrathoracic tumors were investigated for the presence of carcinoembryonic antigen. Additionally, activity of alkaline phosphatase and nonspecific esterase was determined in correlation to the presence of carcinoembryonic antigen. Carcinoembryonic antigen was detected in 60% of all tumors and in 64% of bronchial carcinomas. Most positive findings were observed in adenocarcinomas and epidermoid carcinomas. Mesenchymal tumors (neurinoma, neurosarcoma, neurofibroma, thymoma) showed negative findings. Correlations between the presence of carcinoembryonic antigen and nonspecific esterase respectively alkaline phosphatase were not observed.
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PMID:[Immunohistochemical findings in intrathoracic tumors. III. Detection of carcinoembryonic antigen in tumor tissue]. 638 98

Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease affecting about 1:3000 humans. Neurofibromas are benign soft tissue tumors. Giant cell granuloma (GCG) is a benign tumor-like lesion that is preferentially located in the jaws. GCG can develop in NF1 patients. A 7-year-old female NF1 patient was successfully treated for a recurrent GCG of the right mandibular premolar region. The serum levels of calcium and phosphate, alkaline phosphatase and parathormone were within the normal range. Genetic analysis of the tumor sample (GCG) and blood using 7 microsatellite markers revealed LOH of the NF1 gene in both sources. Inactivation of the NF1 gene may thus contribute to the development of GCG.
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PMID:Loss of heterozygosity in tumor cells of a recurrent mandibular giant cell granuloma in neurofibromatosis type 1. 1764 25

35-year-old male presented with multiple swellings in left leg, headache, weakness of limbs for 4 months, and blurring of vision for the last 15 days. On examination, he was pale, cachexic with generalized lymphadenopathy and lower motor neuron type weakness of limbs sparing right upper limb. Blood investigations showed anemia with high alkaline phosphatase. Chest radiograph revealed osteosclerotic metastatic lesion in humerus. Biopsy of leg lesion revealed atypical neurofibroma. Computed tomography (CT) of thorax revealed osteoblastic metastasis. Bone marrow aspiration showed cells with round to oval nuclei, fine granular chromatin with large central prominent nucleoli and eosinophilic cytoplasm with acini formation. Magnetic resonance imaging (MRI) of brain and spinal cord defined metastatic leptomeningeal deposits. Cerebrospinal fluid (CSF) cytology was positive for malignant cells. Gastroscopy showed an ulceroinfiltrative growth from stomach which on histopathology revealed diffuse adenocarcinoma. Palliative treatment was given with intrathecal methotrexate and systemic corticosteroid with chemotherapy. Patient's symptom improved drastically, but we lost him to followup.
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PMID:Atypical neurofibroma and osteosclerotic metastasis. 2260 53