Intelligence in nephrogenic diabetes insipidus.
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Diabetes Insipidus↗
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[Inappropriate secretion of antidiuretic hormone and diabetes insipidus after surgery for pituitary adenoma].
The purpose of our study was to evaluate the incidence and risk factors of SIADH (syndrome of inappropriate antidiuretic hormone) and diabetes insipidus after pituitary adenoma surgery in patients and report follow-up data collected in our department of endocrinology. This retrospective study included 78 patients seen in the last 5 years. Possible risk factors of SIADH and diabetes insipidus were studies: patient age and gender, type of secretion, tumor volume, surgical approach, presence of postoperative pituitary failure. The incidence of SIADH and diabetes insipidus were similar: 12.8%. We did not find any risk factor for SIADH associated with postoperative anterior pituitary failure. This study illustrates the importance of postoperative follow-up after pituitary adenoma surgery.
Adenoma↗
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene.
OBJECTIVE: Familial autosomal dominant neurohypophyseal diabetes insipidus (FNDI) is a rare form of central diabetes insipidus (DI), which is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. The present study evaluated the AVP secretion over time and analysed the structure of the AVP-NPII gene in a Brazilian family with FNDI. SUBJECTS AND DESIGN: Four affected members and one nonaffected member from one Brazilian family with FNDI were studied. The diagnosis of central DI was established by fluid deprivation test and hypertonic saline infusion. Two affected members were assessed twice within a 6-year interval. For molecular analysis, genomic DNA was extracted and the AVP-NPII gene was amplified by polymerase chain reaction. RESULTS: The functional assessment of patients with FNDI over time confirmed a progressive loss in AVP secretion. Two patients were first diagnosed as partial central DI and, several years later, they developed severe central DI. Sequencing analysis revealed a heterozygous new point mutation in the nucleotide 1892 in the coding sequence for neurophysin-II of the AVP-NPII gene (1892G>C) predicting an amino acid substitution (A68P) in all affected members. CONCLUSION: Our data demonstrate a gradual vasopressinergic deficiency due to a novel mutation in the AVP-NPII gene in a Brazilian family with FNDI. The accumulation of A68P mutated precursor might have a cytotoxicity effect, leading to a gradual death of magnocellular neurones, and a progressive decline in AVP secretion.
Adult↗
[XANTHOMA DISSEMINATUM WITH DIABETES INSIPIDUS].
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Adolescent↗
Unique case of thrombotic thrombocytopenic purpura and diabetes insipidus.
Thrombotic thrombocytopenic purpura (TTP) is a rare and often fatal disorder characterized by thrombocytopenia, microangiopathic hemolytic anemia, mental status changes, and renal dysfunction. Central diabetes insipidus (CDI) is a rare disease due to anatomic lesions of the hypothalamicpituitary system associated with various underlying diseases, or trauma. We present an unusual case of TTP and CDI in a 47 year-old African American female who was admitted to our hospital with crampy abdominal pain and nausea. The patient had tachycardia, fever and hypotension. The patient subsequently became confused, developed seizures, and her renal function deteriorated. Bone marrow analysis showed adequate megakaryocytes while a peripheral smear revealed severe thrombocytopenia, polychromasia and schistocytes. The diagnosis of thrombotic thrombocytopenic purpura (TTP) was made and plasmapharesis initiated. Over the next few days, the patient developed severe polyuria with a rise in serum sodium. Central diabetes insipidus was diagnosed and DDAVP (desmopressin acetate, 1-deamino-8-D-arginine vasopressin) was given. However, DDAVP was stopped several times due to worsening thrombocytopenia. Renal function worsened and the patient expired. A review of the literature revealed only one case of report of TTP and central diabetes insipidus. Our case was the only one reporting the use of DDAVP in such a setting.
Deamino Arginine Vasopressin↗
Comparative study of the antidiuretic effects of Adiuretin-SD (DDAVP) and Pitressin Tannate in diabetes insipidus.
An account is given of experience acquired with the prolonged administration of a new vasopressin analogue, 1-deamino-8-D-arginine vasopressin (DDAVP), to patients with diabetes insipidus. The antidiuretic effect of this compound was compared with that of the long-acting Pitressin Tannate, containing a pituitary extract. It was found that DDAVP induces a far more significant antidiuretic effect than does Pitressin Tannate. Its application is not accompanied by any side effects, nor is its effectiveness decreassed after repeated administration. Similar conclusions were reached with the outpatient treatment of diabetes insipidus patients. The results indicate that nasally-administered Adiuretein-SD can be well utilized in the prolonged treatment of diabetes insipidus.
Adult↗
[Diabetes insipidus as an early clinical manifestation of pineal tumor]
OBJECTIVE: To present a pineal tumor diagnosed after long clinical course of diabetes insipidus.CASE REPORT: A ten years old male patient, with symptoms of polyuria, polydipsia and nocturia for 18 months was admitted at the Nephrology Unit with the diagnosis of nephrogenic diabetes insipidus. Six months prior to his admission, he had been submitted to a computed tomography scan, which was considered inconclusive. The diagnosis of central diabetes insipidus was confirmed by a water deprivation test. A head magnetic resonance imaging demonstrated two masses suggesting germinoma.CONCLUSIONS: Our observations show that patients with central diabetes insipidus need close clinical, laboratory and neuroradiological follow-up in order to detect the intracranially tumors in an early stage.
Journal Article↗
Amphotericin B-induced partial nephrogenic diabetes insipidus in a child.
The case of a 12-year-old boy who developed polyuria and polydipsia while on amphotericin B treatment is discussed. The clinical and laboratory features are most consistent with partial nephrogenic diabetes insipidus. Several adult patients have been reported with amphotericin B-induced nephrogenic diabetes insipidus. To the knowledge of the authors, this is the first pediatric patient described with this condition. Pharmacological doses of antidiuretic hormone in conjunction with diuretic treatment significantly reduced the polyuria and alleviated the associated symptoms. The authors propose that in amphotericin B-induced partial nephrogenic diabetes insipidus, pharmacological doses of antidiuretic hormone may offer an additional benefit to commonly used diuretic therapy.
Amphotericin B↗
Necrotizing infundibulo-hypophysitis: a unique syndrome of diabetes insipidus and hypopituitarism.
Clinical, radiological, histological, and anatomical features in 2 patients with necrotizing infundibulo-hypophysitis are reported. The patients presented with a combination of diabetes insipidus and hypopituitarism. Each was found to have a sellar mass lesion with an abnormally thickened enlarged pituitary stalk that intensively enhanced on contrast magnetic resonance imaging. They were suspected to have pituitary tumors with suprasellar extension. However, tissue obtained at transphenoidal surgery revealed necrosis, fibrosis, and chronic inflammation; there was no evidence of infiltrative, infective, or neoplastic disease processes. Postoperatively, they continued to have diabetes insipidus and hypopituitarism despite radiological improvement and steroid therapy. Several clinical and anatomical features distinguish these 2 cases from classical lymphocytic hypophysitis, the most common entity in the differential diagnosis. Specifically, diabetes insipidus has not been observed preoperatively in 30 cases of lymphocytic hypophysitis, but was present in the 2 cases reported. Histological evidence of tissue necrosis present in these 2 cases is not a feature of lymphocytic hypophysitis. Pituitary stalk involvement on magnetic resonance imaging or computed tomographic scan present in these 2 cases is highly unusual in lymphocytic hypophysitis. Finally, 29 of 30 cases of lymphocytic hypophysitis were females, whereas the 2 cases reported are men. On the basis of these disparate findings, we suggest that these 2 cases represent a unique syndrome, which may be recognized clinically and radiologically.
Adult↗
Lyphomatoid granulomatosis causing central diabetes insipidus: case report and review of the literature.
We report a patient with pulmonary and cutaneous lymphomatoid granulomatosis with central nervous system (CNS) involvement manifesting as central diabetes insipidus and review other cases reported in the literature with attention to presence of endocrine manifestations and response to therapy. Imaging of the pituitary in our patient demonstrated a thickened hypophyseal stalk and empty sella appearance. CHOP chemotherapy proved to be an effective treatment for both the systemic and CNS involvement in our patient, but diabetes insipidus has persisted. We postulate that there was localized involvement of the stalk of the hypophysis by lymphomatoid granulomatosis, which led to a permanent lesion causing diabetes insipidus. We conclude that lymphomatoid granulomatosis may cause endocrine complications that may not resolve despite systemic remission, and while the optimal regimen for CNS involvement with lymphomatoid granulomatosis is unknown, certain patients can have long-term survival after treatment with systemic chemotherapy. Endocrine complications of malignant diseases often present diagnostic and therapeutic challenges to the internist and neuro-oncologist. Lymphoproliferative disorders such as lymphomatoid granulomatosis and malignant lymphomas may cause generalized illness, which may complicate the recognition of neurological and endocrine abnormalities. Once central nervous system (CNS) involvement is documented, there is controversy regarding which therapeutic approaches are indicated to treat the CNS lesions and the systemic disease. We present a patient with lymphomatoid granulomatosis involving the pituitary hypophysis and review the literature to search for a consensus on the best treatment of CNS involvement.
Adolescent↗
[Hann syndrome: remission of diabetes insipidus by functional failure of the anterior pituitary gland].
We know that the symptoms of diabetes insipidus develop only in a state of functional capacity of the neurohypophysis. The symptomatology of diabetes insipidus disappears, when the pars anterior of the hypophysis is destructed, whereas the two lobes have antagonistic effects in respect of water metabolism. Describing two cases the authors remember to F. v. Hann as the first describer of this syndroms' complex and postulate the corresponding nomination.
Aged↗
Diabetes insipidus as a complication of acute myelomonocytic leukaemia.
A female patient, aged 44, with diabetes insipidus as a complication of acute myelomonocytic leukaemia (AMML) is described. She presented with bleeding, anaemia, polyuria and polydypsia. She was treated with intranasal vasopressin for diabetes insipidus and responded well to treatment. Chemotherapy was administered for the leukaemia and a full remission was achieved. The patient relapsed a few days before final admission to hospital and died of septicaemia 7 months after initial diagnosis. A short review of the literature related to this subject is also presented.
Adult↗
Atypical diabetes insipidus in small cell lung cancer. Paraneoplastic syndrome or metastatic disease?
A 54-year old man was admitted with extensive disease: small cell lung cancer, and severe central diabetes insipidus. Computer assisted tomography of the brain was negative for metastatic spread to the hypothalamus or pituitary gland. Basic levels of antidiuretic hormone were within normal limits, yet the hormone failed to increase secondary to elevated osmotic load. We hypothesize that in this patient, hypothalamus and pituitary gland were morphologically intact, and that diabetes insipidus was induced by the inhibitory action of ectopic opiates on the release of antidiuretic hormone. Nevertheless, since post-mortem studies were refused, metastatic diabetes insipidus could not be definitely excluded, in which case, the source of plasmatic antidiuretic hormone would be the tumor itself.
Brain Neoplasms↗
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds.
OBJECTIVE AND STUDY DESIGN: The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by a severe and progressive deficiency of AVP secondary to mutations in the gene encoding the AVP precursor. Whereas a number of studies have investigated the pathogenetic mechanisms behind the disease only few studies have included detailed clinical characterization of the affected patients, thereby making genotype-phenotype correlations difficult. The aims of the present study were to investigate the cellular effects of three different adFNDI mutations (A19T, L81P and C110X) by heterologous expression in a neurogenic cell line and to correlate these findings to the corresponding clinical phenotype as determined by extensive clinical tests. RESULTS: The clinical studies showed a later age of onset in the family carrying the A19T mutation (3.4 years, range 2-9 years) compared with families with the L81P and C110X mutations [0.75 year, range 0.5-1 year and 1.0 year (n = 1), respectively]. No other differences could be demonstrated in the clinical phenotype between families. Expression studies showed that each of the three mutant genes caused significant reduction of the amount of immunoreactive AVP in the cell culture medium and severe impairment of the intracellular trafficking and processing of the AVP prohormone, supporting the disease causing nature of all three mutations. However, the A19T mutation was associated with some capacity for processing and trafficking consistent with the clinical observations. Immunoflourescence studies provided evidence of reticular accumulation of protein within the ER in the A19T and C110X mutants but a unique accumulation of much larger aggregates in the L81P, which were localized both within and immediately outside the ER. CONCLUSION: The study suggests a genotype-phenotype correlation with regard to age of onset of diabetes insipidus symptoms and provides support by expression studies.
Adolescent↗
Comparative therapeutic benefit of indomethacin, hydrochlorothiazide, and acetyl-salicylic acid in a patient with nephrogenic diabetes insipidus.
To define the importance of renal prostaglandins in nephrogenic diabetes insipidus (NDI), diuresis and the urinary excretion of PGE2 and PGF2 alpha were studied in a patient with NDI before and during inhibition of endogenous prostaglandin synthesis with either indomethacin (IND) or acetyl-salicylic acid (ASA). The excretion rates of PGE2 and PGF2 alpha were in the low normal range for the patient's age group, remained unchanged during 6 h of fluid deprivation and were suppressed by IND (150 mg/day), ASA (3 g/day), and by the combination of IND and hydrochlorothiazide (HCT, 50 mg/day). However, whereas IND, HCT, and the combination of IND and HCT reduced diuresis ASA did not. Free water clearance as determined during fluid deprivation remained positive during each phase of therapy. These data fail to demonstrate a direct effect of endogenous ADH on renal prostaglandin synthesis in NDI. The ineffectiveness of ASA to reduce diuresis indicates that indomethacin affects diuresis in NDI by a mechanism other than inhibition of cyclooxygenase.
Adolescent↗
[Long-term treatment of central diabetes insipidus with oral DDAVP].
Clinical use of the DDAVP (1-Deamino-8-D-Arginine Vasopressin) is now the first choice in treatment of Central Diabetes Insipidus. It is an analogue of Vasopressin with a higher antidiuretic potency, less vasopressor activity, and a longer duration of action. This drug still presents some problems of administration route. A lot of studies were published about different administration routes of DDAVP: sublingual tablets, parenteral solution, nose spray and suction de-epithelialized skin. Some authors have utilized the oral route (solution or tablets) with good results in short-term treatment. We think the formulation in tablets of DDAVP is an efficacious support of the therapy in this disease also for long-treatment. In our study 3 patients with Central Diabetes Insipidus (aged 22-56; 2 idiopathic and 1 post-surgery) previously treated with DDAVP nasal solution (10 micrograms/day; 36-156 months), have been submitted to a chronic treatment with DDAVP tablets for a period of 24-36 months. The DDAVP tables were administered at the dosage of 400-600 micrograms/day in 2-3 administrations. The patients were studied at intervals of 3-6 months, and on each occasion full blood count, glucose, azotaemia, creatinine, liver function tests, electrolytes, urine volume, density and osmolality were estimated. The long-treatment with oral DDAVP was able to keep a good control of the disease in all patients. In case 1 we had a significant reduction of urine volume (p < 0.01) and a significant increase (p < 0.01) of urine osmolality in comparison with previous treatment with nasal solution; in case 2 and 3 no significant changes were observed. No side effects were noted during this study. The drug has been well tolerated and the compliance of patients was better during oral DDAVP than nasal solution. In our opinion the oral DDAVP is an effective and safe solution for the treatment of Central Diabetes Insipidus, and give to the patients a better quality of life in comparison to the nasal solution.
Administration, Intranasal↗
[Erythroleukemia revealed by diabetes insipidus].
A 4 year-old girl presented simultaneously with an erythroleukemia and a diabetes insipidus. The cytologic signs of dyserythropoiesis, the increase of some red blood cell glycolytic enzymes and of fetal hemoglobin, led to discuss the existence of a double population in the red blood cell series. The revealing character of diabetes insipidus, not yet reported, is emphasized.
Child, Preschool↗