Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypothalamic lesions occasionally lead to excessive hypernatraemia and hyperosmolarity which cannot be explained by defective ADH secretion alone. As osmoregulation is a complex system the clinical features differ widely from one patient to another. In general central dysregulation of osmolarity is due to diffuse hypothalamic lesions, e.g. inflammatory inflammatory infiltration by histiocytosis X or by large suprasellar tumours. We report on a ten-year-old girl suffering from a suprasellar spongioblastoma and a twelve-year-old-girl, who had been operated for a large craniopharyngioma. Polyuria and polydipsia were not present. Whereas one patient presented hypernatraemic crises and showed normal osmolarity at the intervals, the other patient suffered from sustained hypernatraemia and hyperosmolarity. In the first patient water loading led promptly to clinical and laboratory normalisation. In the other case water loading failed to decrease hyperosmolarity but led to oedema. In the first patient hypernatraemic crises were combined with decreased serum potassium levels and elevated urinary aldosterone excretion. Therefore acute and long-term trials of spironolactone treatment were successful. Exogenous ADH-derivatives failed to normalize hyperosmolarity. In the other patient, however, DDAVP decreased the serum sodium level seen with small doses.
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PMID:[Hypothalamic hyperosmolarity in childhood (author's transl)]. 31 68

In our recent experience, the posttraumatic diabetes insipidus (PT.DI) and idiopathic (I.DI) are the most common forms of central diabetes insipidus (C.DI) in adult patients. The hypothalamo-pituitary function in these patients may be quite heterogeneous. We evaluated this aspect in 32 patients with different forms of C.DI (19 males and 13 females; aged 16-55 yrs): 12 with previous severe cranial or general trauma; 8 with CNS lesion due to Tuberculosis, Sarcoidosis, Histiocytosis X or to other pathogenic noxa (Secondary DI); 12 with idiopathic form. In all we measured ACTH, TSH, FSH, LH, PRL and target hormones (pl. cortisol, T3 T4, Testosterone) in baseline conditions with and without substitutive DDAVP therapy. In all cases the hormonal pattern was within the normal range. In several patients stimulation test with specific releasing factors (TRH, LHRH, oCRH) were carried out. Although basal anterior pituitary function is usually normal in patients with central DI (post-traumatic, idiopathic or secondary), an isolated subclinical secondary or tertiary hypothyroidism can be observed in some cases. Thus, a more accurate, periodical, and complete hormonal evaluation is indicated in some patients. The maintained response of ACTH to CRH (even increased after acute withdrawal therapy) indicated that AVP is not necessary to ensure normal function to the CRH-ACTH axis.
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PMID:[Anterio-hypophyseal function in central diabetes insipidus]. 281 47

Nephrogenic diabetes insipidus is a rare, mostly X-linked recessive disorder characterised by renal tubular resistance to the antidiuretic effect of arginine vasopressin. The gene responsible for the X-linked nephrogenic diabetes insipidus, the G-protein-coupled vasopressin V2-receptor, has been localised on the Xq28 region. In this study four patients were investigated with molecular genetic methods. Diagnosis was based on clinical symptoms and lack of increase of urinary osmolality after administration of the arginine vasopressin, or the synthetic vasopressin analogue DDAVP. Three different mutations (C112R, N317K, W323S) were found in three patients, while no mutation was detected in the fourth patient. Since earlier histiocytosis X has been diagnosed in this patient, this patient has probably central diabetes insipidus. Although the main symptoms of the disease can be found in all patients, there are significant differences in the seriousness of the symptoms as well as in some other symptoms. The explanations might be the different mutations in the V2-receptor gene and the various other genetic and environmental factors; these findings provide further evidence that X-linked nephrogen diabetes insipidus results from defects in the V2-receptor gene.
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PMID:[Molecular biological studies on patients with nephrogenic diabetes insipidus]. 957 1

The incidence of diabetes insipidus secondary to Langerhans' cell histiocytosis (LCH) varies among different reports, ranging from 9.5 to 50%, but it has never been reported in literature in Taiwan. Therefore, we presented a case suffering from polyuria, polydipsia, body weight loss for more than one year and seborreic dermatitis-like skin lesions over the scalp and trunk for more than two years. Her body weight and body length were both less than 3 percentile. Fluid restriction and vasopressin test were performed to differentiate nephrogenic from neurogenic diabetes insipidus. Skin biopsy revealed picture of LCH and LCH with complete central diabetes insipidus was diagnosed. Brain MRI and other laboratory examinations were all within normal limits. She received nasal DDAVP treatment and chemotherapy with TPOG-H 94 protocol. After 3 months treatment, her skin lesions disappeared and daily urine amount returned to normal range.
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PMID:Diabetes insipidus in Langerhans' cell histiocytosis: report of a case. 1037 74

Multifocal Langerhans' cell histocytosis is a rare condition in adults. We present the case of a 31-year-old female who initially presented with a clinical appearance of acute mastoiditis. The patient ultimately had involvement of bilateral temporal bones, lungs, and hypothalamus. Treatment with methotrexate, steroids, and desmopressin acetate (DDAVP) resulted in initial clinical improvement though not resolution. The patient also underwent radiation therapy to the hypothalamic lesion. The literature is reviewed, focusing on the diagnostic challenge of this disease process in adults. The additional morbidity of surgery, specifically mastoidectomy, in the setting of Langerhan's cell histiocytosis is discussed.
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PMID:Multifocal langerhans' cell histiocytosis involving bilateral temporal bones, lungs, and hypothalamus in an adult. 1717 Oct 82

We describe a six-yr-old boy who exhibited typical signs and symptoms of LCH with EBV-associated hemophagocytic syndrome from the age of 15 months. Multiple courses of conventional chemotherapy achieved only marginal improvement over the ensuring five yr. During this period, this boy experienced recurrent episodes of hemophagocytic syndrome associated with CMV infection. Five yr after the first diagnosis of LCH, the patient was treated with allogeneic PBSCT from his HLA-identical eight-yr-old brother. PBSCT was performed using a TBI-incorporating conditioning regimen comprising TBI, busulfan, and cyclophosphamide. Diabetes insipidus, typically a permanent consequence of LCH, was well controlled by DDAVP therapy. At the time of writing, this boy is alive and well, and had been disease-free for more than two yr after the PBSCT.
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PMID:Successful treatment of refractory Langerhans cell histiocytosis by allogeneic peripheral blood stem cell transplantation. 1818 96

Diagnosis and treatment of Langerhans cell histiocytosis (LCH) in elderly patients are often difficult. We report here a 61-year-old female suffering from a refractory axillary ulcer for nearly a year, whose biopsy revealed LCH. It was also noted that the patient had other cutaneous papulovesicular eruptions of LCH as well as central diabetes insipidus. The patient was first successfully treated with multiagent chemotherapy (cytosine arabinoside/vinblastine/prednisolone). DDAVP also well controlled diabetes insipidus; however, the axillary ulcer and cutaneous LCH relapsed. Thereafter, we found topical imiquimod to be effective in the treatment of relapsed cutaneous LCH lesions.
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PMID:Topical Imiquimod for the Treatment of Relapsed Cutaneous Langerhans Cell Histiocytosis after Chemotherapy in an Elderly Patient. 2953 77