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We present a case of diabetes insipidus in a young man caused by Langerhan's cell histiocytosis of the sphenoid sinus with involvement of the pituitary gland. Diagnosis and management of this rare condition is discussed, along with a brief view of the literature.
In chloralozed dogs with chronic diabetes insipidus induced by hypothalamic lesion, one period of 30 minutes of negative pressure breathing (-10 to -15 cmH5O) did not provoke the usual diuretic reflexe as in normal dogs. This result gives an other argument for the intervention of antidiuretic neuro-hypophyseal hormone in diuretic reflexes provoked by increase of central intrathoracic blood volume.
Four boys with classical nephrogenic diabetes insipidus have been treated by indomethacin, by hydrochlorothiazide, and by the combination of indomethacin and hydrochlorothiazide. Hydrochlorothiazide treatment was slightly more effective than indomethacin treatment in reducing the urine volume and increasing the urine osmolality. The combination of indomethacin and hydrochlorothiazide appeared to be additive and especially helpful in infants and young children before the autonomy of drinking.
Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-producing neurons.
A 20-year-old woman with a transient diabetes insipidus as a complication to meningococcal meningitis is presented. This condition has only been described once before. Culture of blood and spinal fluid yielded Neisseria meningitidis group B, sensitive to penicillin. The diabetes insipidus arose on day 4 after admission and continued to day 15. Treatment comprised benzylpenicillin, DIC therapy, assisted ventilation, and vasopressin.
Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is a familial form of diabetes insipidus due to progressive vasopressin deficiency with onset typically at 1-6 yr of age. Affected individuals demonstrate specific degeneration of the vasopressinergic magnocellular neurons in the hypothalamic supraoptic and paraventricular nuclei and loss of the posterior pituitary bright spot on magnetic resonance imaging. The genetic locus of ADNDI is the arginine vasopressin-neurophysin II (AVP-NPII) gene. Mutations that cause ADNDI have been found to occur both within the signal peptide of the prepro-AVP-NPII precursor and within the coding sequence for neurophysin II, but not within the coding sequence for AVP itself. We evaluated the AVP-NPII genes in two independent families with ADNDI and identified a mutation (C280-->T) in the coding sequence for the signal peptide of the prepro-AVP-NPII precursor in both families. This mutation encodes an Ala-->Val substitution at the C-terminus of the signal peptide (-1 amino acid). This mutation predicts the complete inability of signal peptidase to cleave the signal peptide from the preproprecursor and supports the hypothesis that the progressive neural degeneration that underlies ADNDI is caused by accumulation of malprocessed precursor. However, considerable heterogeneity in the age of onset (1-28 yr of age) and the severity of diabetes insipidus among affected members of these two families suggests that additional factors modulate the rate and extent of progression of the neurodegeneration that results from this one specific ADNDI mutation.
Diabetes insipidus (DI) developed in 14 of 16 children who satisfied criteria for brain death. The occurrence of DI after an hypoxic/ischemic insult may represent midbrain death and seems to be a clinically useful sign in the diagnosis of brain death in children. In two patients, DI resolved spontaneously; these patients and children without DI may have had small areas of residual cerebral blood flow and brain function. The onset or cessation of DI was temporally associated with the use of dopamine in three patients.
Autosomal-dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by heterozygous mutations in the gene encoding vasopressin-neurophysin II (AVP-NPII) on chromosome 20p13. We analyzed the AVP-NP II gene in a family with adFNDI by direct sequencing. A novel C to T transition (289C-->T in the cDNA, resulting in the substitution of Arg 97 by Cys (R97C) in the prepro-AVP-NPII precursor molecule) was identified in the gene region encoding neurophysin II in the index patient. This amino acid change is thought to result in the formation of an incorrectly folded hormone precursor, which may lead to chronic neurotoxicity and explain the dominant inheritance of the disease.
Two cases of diabetes insipidus (hypothalamic and nephrogenic) with massive nonobstructive trabeculation and dilation of the bladder and hydroureteronephrosis are reported. The cases are evaluated thoroughly--radiologically and urodynamically. Treatment options are discussed, including the use of an important new drug, dDAVP. The general subject of diabetes insipidus and its urologic implications is reviewed.
Three cases of transient central diabetes insipidus after cardiopulmonary bypass are presented. All 3 patients responded promptly to administration of vasopressin, and were completely recovered from polyuria 10 days after cardiac surgery. It is postulated that transient diabetes insipidus after cardiac operation occurred in some patients who had preexisting selective osmoreceptor dysfunction when cardiac standstill during extracorporeal circulation alters the left atrial nonosmotic receptor function, resulting in suppression of antidiuretic hormone release.
In 13 patients with hypothalamic diabetes insipidus after daily single intravenous (0.04-24 mug) and single intranasal (5-320 mug) doses of 1-deamino-8-D-arginine vasopressin (DDAVP) the relationships between the log doses and antidiuretic responses (log osmolalities of 24-hour urine samples) were compared. On the basis of such comparisons the ratio of nasal per venous daily single dose requirement was determined and found to be 26:1. Similarly, the relative potency of venous DDAVP was investigated in two subgroups of patients classified according to their response to peroral drugs. Seven times more DDAVP was required for patients treated previously with high doses of peroral antidiuretics. It was concluded that in groups of patients with divergent peroral dose requirements different DDAVP single-dose treatment schedules should be planned.
OBJECTIVE: Autosomal dominant familial neurohypophyseal diabetes insipidus is a rare disorder characterized by polydipsia and polyuria. We present the results of the molecular analysis of the AVP-NPII gene of a German kindred. METHODS: All three exons of the gene were amplified by polymerase chain reaction and sequenced. RESULTS: In 7 affected individuals a new missense mutation (1770G > T) in exon 2 was found predicting a cysteine to phenylalanine substitution at codon 58 in the neurophysin II domain (NPII). CONCLUSION: As a result of this mutation a cysteine residue is exchanged, which is involved in a disulfide bond with cysteine 44 of the NPII moiety, hypothesizing that the resulting misfolded protein may lead to chronic neurotoxicity by accumulation of these products in the endoplasmatic reticulum.
Nephrogenic diabetes insipidus (NDI) is characterised by the inability of the kidney to concentrate urine in response to arginine vasopressin. The consequences are severe polyuria and polydipsia, often associated with hypertonic dehydration. Intracerebral calcification, seizures, psychosomatic retardation, hydronephrosis, and hydroureters are its sequelae. In this study, four children with NDI were treated with 3 mg/kg/day hydrochlorothiazide and 0.3 mg/kg/day amiloride orally three times a day for up to five years. While undergoing treatment, none of the patients had signs of dehydration or electrolyte imbalance, all showed normal body growth, and there was no evidence of cerebral calcification or seizures. All but one had normal psychomotor development and normal sonography of the urinary tract. However, normal fluid balance was not attainable (fluid intake, 3.8-7.7 l/m2/day; urine output, 2.2-7.4 l/m2/day). The treatment was well tolerated and no side effects could be detected. Prolonged treatment with hydrochlorothiazide/amiloride appears to be more effective and better tolerated than just hydrochlorothiazide. Its efficacy appears to be similar to that of hydrochlorothiazide/indomethacin but without their severe side effects.
A 60-year-old man was diagnosed as Hand-Schüller-Christian disease due to the triad of exophthalmus, decalcification of the bone, and diabetes insipidus. He had xanthogranuloma on the face and a nuchal region, and unusual complications of ADH-resistant diabetes insipidus due to renal dysfunction, and chronic cardiac failure. Urine osmolality was hypotonic, but urine volume was within the normal limit, despite the presence of central diabetes insipidus. Hypophyseal, adrenal and thyroid function were not remarkable. The skin biopsy showed the infiltration of eosinophilic granuloma cells. Treatment with vincristine was effective to regress the xanthogranuloma. Diabetes insipidus was not treated because of the absence of polyuria and polydipsia.
A 2-year-old girl with alobar holoprosencephaly associated with facial abnormalities, central diabetes insipidus, and a neuronal migration disorder is reported. The diagnosis of diabetes insipidus was based on low urine osmolality and low plasma ADH concentration during a water deprivation test, and clinical and biochemical improvement after desmopressin acetate administration. Because the posterior portion of the pituitary was located in the sella turcica and the hypothalamo-pituitary stalk was intact, the diabetes insipidus was presumed to have been caused by hypothalamic osmoreceptor dysfunction. MRI findings were compatible with alobar holoprosencephaly. In addition, heterotopic gray matter was recognized as a continuous band over a single ventricle. Defective cleavage of the prosencephalon associated with a neuronal migration disorder is characteristic of alobar holoprosencephaly.
Congenital nephrogenic diabetes insipidus (NDI) is, in most instances, a rare X-linked recessive renal disorder (MIM 304800) characterized by the clinical symptoms of polyuria, polydipsia, and dehydration. The X-linked NDI is associated with mutations of the arginine vasopressin receptor type 2 (AVPR2) gene, which results in resistance to the antidiuretic action of arginine vasopressin (AVP) in the renal tubules and collecting ducts. Identification of mutations in the AVPR2 gene can facilitate early diagnosis of NDI, which can prevent serious complications such as growth retardation and mental retardation. We analyzed three unrelated Chinese NDI families and identified three mutations: R106C, F287L, and R337X. In addition, an A/G polymorphism at cDNA nucleotide position 927 (codon 309L) was identified. A functional expression assay of the R106C and F287L mutants in COS-7 cells revealed that both mutants show significant dysfunction and accumulate intracellular cyclic adenosine monophosphate in response to AVP hormone stimulation. These results facilitate the diagnosis of NDI at the molecular level in the Chinese population, and provide insight into the molecular pathology of NDI.
Seven paediatric patients with central diabetes insipidus were studied in an open dose ranging study in hospital followed by a six month study on an outpatient basis to assess the efficacy and safety of peroral administration of DDAVP (desmopressin) tablets. In the dose ranging study a dose dependent antidiuretic response was observed. The response to 12.5-50 mcg was, however, less effective in correcting baseline polyuria than were doses of 100 mcg and above. Patients were discharged from hospital on a preliminary dosage regimen ranging from 100 to 400 mcg three times daily. After an initial adjustment in dosage in three patients at one week follow up, all patients were stabilised on treatment with tablets and reported an adequate water turnover at six months. As with the intranasal route of administration dosage requirements varied from patient to patient, and a dose range rather than standard doses were required. A significant correlation, however, was found for the relation between previous intranasal and present oral daily dosage. No adverse reactions were reported. No clinically significant changes were noted in blood chemistry and urinalysis. All patients expressed a preference for the oral over existing intranasal treatment. Treatment with tablets offers a beneficial alternative to the intranasal route, particularly in patients with chronic rhinitis or impaired vision.
X-linked recessive nephrogenic diabetes insipidus is caused by mutations in the gene encoding the V2 vasopressin receptor (V2R), the mediator of the antidiuretic effect of arginine vasopressin (AVP) in mammalian kidneys. Upon binding to AVP, the receptor activates the G protein Gs, stimulating a phosphorylation cascade that promotes translocation of presynthesized water channels to the apical surface of the principal cells lining the last segments of the nephron. The presence of these channels allows the flow of water from the hypotonic lumen of the nephron into the hypertonic interstitium. More than 100 different mutations have been identified since the receptor gene was characterized--in most cases one per family, although some families bear two and three mutations in the same gene. The frequency of the de novo mutations identified suggests that the DNA at the end of the long arm of the X chromosome is very susceptible to alteration. The mutations are scattered within the coding region, not confined to a particular segment of the receptor protein, and in most cases confined to a single amino acid change that significantly reduces the number of receptors present on the plasma membrane. Some mutations do not affect protein synthesis but significantly reduce the coupling efficiency between the receptor and G protein. Analysis of the biochemical impact of the mutations has provided valuable information about the synthesis and regulation of the receptor.