Symptoma

Hyperparathyroidism-Jaw Tumor Syndrome

HPT-JT

The authors present a case of severe postsurgical hypercalcemia after removal of a large maxillary ossifying fibroma in a patient with previously unrecognized hyperparathyroidism-jaw tumor AU3 syndrome. [ncbi.nlm.nih.gov]

  • Episodic Abdominal Pain

    abdominal pain 0002574 Headache Headaches 0002315 Mandibular pain Lower jaw pain 0200025 Muscle weakness Muscular weakness 0001324 Nausea and vomiting 0002017 Pancreatitis Pancreatic inflammation 0001733 Peptic ulcer Sore in the lining of gastrointestinal [rarediseases.info.nih.gov]

  • Facial Angiofibroma

    Other tumors strongly associated with MEN 1 include lipomas, facial angiofibromas, collagenomas, thyroid and adrenal nodules, and foregut carcinoids. [entokey.com]

  • Long Arm

    We mapped HRPT2 to the long arm of chromosome 1 (1q21-q31). The maximal lod score was 6.10 at theta .0 with marker D1S212, or 10(6) odds in favor of linkage. [ncbi.nlm.nih.gov]

    Mutations occur in a gene called HRPT2, which resides on the long arm of chromosome one, according to the researchers who published their findings in the Nov. 18 issue of Nature Genetics online. [sciencedaily.com]

    Linkage analysis assigned the disease-predisposing gene HRPT2 to the long arm of chromosome 1 at the q21-q31 region. The HRPT2 gene encodes a 531 aa tumor suppressor termed parafibromin. [perioimplantadvisory.com]

    We mapped HRPT2 to the long arm of chromosome 1 (1q21-q31) [12]. [wikigenes.org]

  • Severe Osteoporosis

    Bone densitometry showed severe osteoporosis, with T score at 5 S.D. During her stay in hospital, the patient suffered from a pathological fracture of both femoral necks. [em-consulte.com]

  • Abnormal Reflex

    Neurologic examination revealed a motor deficiency predominant in the lower limbs without abnormal reflexes or sensorial disorders. Electromyography showed a pure axonal motor deficiency predominant in the lower limbs. Muscle biopsy was normal. [em-consulte.com]

Anemia workup indicated severe hypercalcemia. Investigations were consistent with a diagnosis of HPT-JT. The patient underwent a total 4-gland parathyroidectomy with single gland reimplantation. [ncbi.nlm.nih.gov]

Genetic testing is an important part of the workup in the assessment of patients with suspected MEN 2 syndrome, and the clinical features and tumor behavior are closely related to the specific RET germ-line mutation present. [entokey.com]

Aromatase inhibitors may represent a novel treatment for benign uterine pathology in HPT-JT. [ncbi.nlm.nih.gov]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Development of these two mouse models will provide a means for dissecting the molecular basis of HPT-JT, sporadic parathyroid tumors and ossifying jaw fibromas and may ultimately enable the development of new diagnostic and treatment strategies. [grantome.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

To present the pathologist with current clinical information on diagnosis, differential diagnosis, staging, and prognosis of thyroid cancers, topics presented are: Poorly differentiated thyroid carcinoma; Paraganglimoa; Immunohistochemical markers for [books.google.com]

The hyperparathyroidism - Jaw tumor syndrome has a special clinical importance because of the severe and progressive symptomatology, and because of the risk of developing neoplasia of parathyroid glands, which have a reserved prognosis. [clujulmedical.umfcluj.ro]

Extensive literature search and thorough investigation helped us parturitate the underlying syndrome, thereby predictively improving the prognosis. [ajol.info]

Prognosis - Hyperparathyroidism- familial- primary The diagnosis of primary hyperparathyroidism is made by blood tests. Serum calcium levels are elevated. [checkorphan.org]

Prognosis The reported survival rate is less than 50% to 85% at 10 years. [shifrinmd.com]

RISK FACTORS The etiology of parathyroid carcinoma is poorly understood. There is a well-described genetic predisposition. [shifrinmd.com]

(GI gastrointestinal) Etiology and Pathogenesis PRIMARY HYPERPARATHYROIDISM Primary hyperparathyroidism is caused by the inappropriate secretion of PTH, which results in hypercalcemia. [aafp.org]

The proposed studies are designed to address the mechanisms through which loss of Hrpt2/parafibromin promotes neoplasia in the parathyroid glands and jaws, in the pathophysiologically relevant experimental context of an intact animal. [grantome.com]

Educators and researchers have to introduce molecular pathways and their genetic variability in their teaching, as well as understanding of classic physiology and pathophysiology. [books.google.com]

Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review. J. Oral Maxillofac. [invitae.com]

Chattopadhyay N, Mithal A, Brown EM: The calcium-sensing receptor: A window into the physiology and pathophysiology of mineral ion metabolism. Endocr Rev 1996;289–306. [karger.com]

Secondary hyperparathyroidism is the result of a physiologic or pathophysiologic parathyroid response to hypocalcemia in an attempt to maintain calcium homeostasis. The condition can occur because of vitamin D deficiency or low calcium intake. [aafp.org]

Total parathyroidectomy was performed to prevent recurrence. [ncbi.nlm.nih.gov]

The mainstay for treatment in patients with MEN 2, with early identification of germ-line mutations in the RET gene, is prophylactic thyroidectomy to prevent medullary thyroid carcinoma. [entokey.com]

[…] will help us to understand how changes in the HRPT2 gene cause cancer, will allow for insight into the progression from a benign (non-cancerous) tumor to a malignant cancer, capable of spreading into other parts of the body, and also to test cancer-preventative [grantome.com]

This prevents the protein from functioning properly in the cell. Symptoms of the syndrome are nondescript, such as tiredness and depression. People usually learn they have the condition when a blood test shows their calcium level is too high. [sciencedaily.com]

Prevention - Hyperparathyroidism- familial- primary Not supplied. Diagnosis - Hyperparathyroidism- familial- primary Not supplied. [checkorphan.org]