1/28. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy.We have studied 5 infants with persistent severe diarrhea from birth and marked abnormalities of absorption associated with failure to thrive leading to death in 4 infants. Three had siblings who died and a sibling of a 4th is ill at present, all with a similar illness; 2 were the products of consanguinous marriages. Exhaustive investigation failed to identify a recognized disease entity in any patient. steatorrhea, sugar malabsorption, dehydration, and acidosis were severe in all patients, whatever the diet fed. Total parenteral nutrition was used, but excessive stool water and electrolyte losses persisted even when nothing was fed by mouth. There was no evidence of a hematological or consistent immunological defect in any infant and no abnormalities of intestinal hormones were noted. In the duodenal mucosa of all infants we saw similar abnormalities characterized by villus atrophy, crypt hypoplasia without an increase in mitoses or inflammatory cell infiltrate in the lamina propria and in villus enterocytes absence of a brush border, increase in lysosome-like inclusions, and autophagocytosis. In 3 infants studied by marker perfusion of the proximal jejunum we found abnormal glucose absorption and a blunted response of Na absorption to actively transported nonelectrolytes; in 2 there was net secretion of Na and H2O in the basal state. Our patients evidently suffered from a congenital enteropathy which caused profound defects in their capacity to assimilate nutrients. The similar structural lesion seen in the small intestinal epithelium of all of our cases undoubtedly contributed to their compromised intestinal function, but the pathogenesis of this disorder, if indeed it is a single disease, remains obscure.- - - - - - - - - - ranking = 1keywords = secretion, hormone (Clic here for more details about this article) |
2/28. Severe hypernatremic dehydration in an infant with netherton syndrome.Netherthon syndrome is a rare autosomal recessive disease characterized by ichthyosis, the characteristic hair abnormality trichorrhexis invaginata and atopic manifestations. We report a female child with the severe hypernatremic dehydration form of the netherton syndrome born as the first child of consanguineous parents. ichthyosis was present at birth. She was admitted to the intensive care unit at the age of 4 days with important loss of weight and dehydration. Severe hypernatremia and convulsions occurred. Despite intensive care the baby died at the age of 11 days. The diagnosis of netherton syndrome was confirmed by the finding of the pathognomonic hair shaft anomaly trichorrhexis invaginata (bamboo hair) and premature lamellar body secretion and foci of electron-dense material in the intercellular spaces of stratum corneum as relatively specific markers for netherton syndrome. netherton syndrome is characterized by a large variability in phenotypic expression. The major neonatal complication is the hypernatremic dehydration, which can be fatal as in this patient or complicated by neurologic signs (intracranial hemorrhage) and secondary sequellae. Molecular studies revealed a mutation in SPINK 5, encoding a serine protease inhibitor. prenatal diagnosis was performed in the second pregnancy and showed that the fetus was equally affected.- - - - - - - - - - ranking = 0.9076925368239keywords = secretion (Clic here for more details about this article) |
3/28. A case of hypopituitarism with diabetes insipidus and loss of thirst. Role of antidiuretic hormone and angiotensin ii in the control of urine flow and osmolality.A 20-yr-old male was found to have diabetes insipidus is association with panhypopituitarism but without any focal neurological lesion being identified. He was initially treated with steroid supplements, the features of diabetes insipidus being controlled with a thiazide diuretic. Eighteen months later the patient lost thirst sensation and stopped treatment, subsequently being re-admitted with severe dehydration, oliguria and focal neurological signs. Further investigation, including brain biopsy, confirmed the presence of an atypical pinealoma which was considered inoperable. Measurements of plasma antidiuretic hormone (ADH) and angiotensin ii (AII) concentrations during the severe dehydration showed very high levels of AII, but inappropriately low plasma ADH levels for the severity of dehydration. We consider that the evidence obtained from this case supports the view that the oliguria with hypertonic urine present during severe dehydration was due to a direct renal action of the very high AII levels, possibly supplemented by the residual ADH secretion.- - - - - - - - - - ranking = 75.458883844721keywords = antidiuretic hormone, antidiuretic, secretion, hormone (Clic here for more details about this article) |
4/28. Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report.We report a child with diabetes insipidus and hypodipsia associated with holoprosencephaly. A two-year-old girl with the history of several admittances to hospital during and after the newborn period with hypernatremic dehydration, acute renal failure and convulsions is presented. The patient had hypodipsia, hypernatremia, microcephaly, failure to thrive, and unilateral cleft lip and palate. magnetic resonance imaging revealed lobar type holoprosencephaly. Increased plasma osmolality and decreased urinary osmolality were detected. Her urine ADH level was 10 ng/day. plasma osmolality levels returned to normal after hydration and administration of a vasopressin analogue. These findings suggest that in children with hypernatremia-hypodipsia syndrome, the possibility of cerebral malformations should always be kept in mind.- - - - - - - - - - ranking = 22.236602816602keywords = vasopressin (Clic here for more details about this article) |
5/28. Vasoactive intestinal polypeptide-secreting tumor (vipoma) with liver metastases: dramatic and durable symptomatic benefit from hepatic artery embolization, a case report.neuroendocrine tumors often manifest an excess production of hormones that create severe metabolic abnormalities resulting in significant patient morbidity, independent of the tumor burden itself. VIPomas are rare neuroendocrine tumors arising from the pancreas and are associated with secretory diarrhea and electrolyte disturbances. We present a patient with vipoma and hepatic metastases who had greater than 10 loose stools a day for 4 yr since diagnosis, despite debulking surgery, multiple antidiarrheal medications, large doses of octreotide, and targeted radioisotope injections. The patient required several hospitalizations for treatment of dehydration and electrolyte disturbances, despite receiving daily intravenous fluids at home. hepatic artery embolization (HAE) immediately stopped the patient's diarrhea and provided a return to normal formed stools without any other symptom-support measures. One year after HAE, the patient remains asymptomatic and has returned to a productive life. HAE can be a very effective and durable treatment modality for patients with metastatic VIPomas (or other neuroendocrine tumors) and who are clinically symptomatic from the effects of hormone hypersecretion.- - - - - - - - - - ranking = 1.0923074631761keywords = secretion, hormone (Clic here for more details about this article) |
6/28. Secretory diarrhea owing to a tape bezoar in a child with Hirschsprung's disease.bezoars can be composed of a multitude of materials and can present in a wide variety of ways. The authors describe a young boy who had secretory diarrhea caused by an ileal bezoar composed of surgical adhesive tape. This report expands the literature on causes and presentation of intestinal bezoars in children.- - - - - - - - - - ranking = 4.8871740071155keywords = adh (Clic here for more details about this article) |
7/28. Myelodysplastic syndrome with central diabetes insipidus manifesting hypodipsic hypernatremia and dehydration.Central diabetes insipidus (DI) is a rare but recognized complication of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) that is caused by leukemic infiltration to the hypothalamo-neurohypophyseal system. In rare patients in whom a wide region of the hypothalamus is involved, central DI results in hypodipsic hypernatremia and dehydration. Typical DI symptoms such as polydipsia, polyuria, and marked thirst are concealed in these cases, because the hypothalamic "thirst center" cannot send thirst stimuli to the cerebral cortex. Herein we describe a patient with MDS developing into AML, who presented with hypodipsic hypernatremia and dehydration. A diagnosis of central DI was made on the ground of a low level of serum anti-diuretic hormone (ADH) despite high serum osmolality. A magnetic resonance imaging study revealed attenuation of a physiological "bright spot" of the neurohypophysis. An induction course chemotherapy including regular-dose cytarabine and daunorubicin produced a rapid improvement of hypernatremia. The bone marrow aspirate after two courses of chemotherapy showed complete remission. At that point, ADH release and the "bright spot" were recovered. In order to correctly diagnose central DI in association with hematological malignancies, we should not overlook this atypical type of DI.- - - - - - - - - - ranking = 0.092307463176098keywords = hormone (Clic here for more details about this article) |
8/28. Hypothalamic adipic hypernatraemia syndrome with normal osmoregulation of vasopressin.Adipsic hypernatraemia is an uncommon disorder in childhood caused by a defect in the osmoregulation of thirst, leading to impairment of water homeostasis and chronic hyperosmolality of body fluids. Adipsia is often associated with an abnormality in osmoregulated vasopressin secretion due to the close proximity of the hypothalamic osmoreceptors that control thirst with those regulating vasopressin secretion. Hypothalamic lesions of diverse aetiology (vascular abnormalities, neoplasms, granulomatous diseases, trauma etc.) have been described in this syndrome. We report a 12-year-old boy with evident weight loss due to hypernatraemic dehydration with a selective defect in osmoregulation of thirst and normal vasopressin secretion with no demonstrable structural lesion. To date, only six paediatric patients with this condition have been described in the literature. Conclusion: Hypothalamic adipsic hypernatraemia syndrome must be suspected when a dehydrated patient denies thirst. The study of antidiuretic function is necessary because the osmoregulation of vasopressin secretion could be altered.- - - - - - - - - - ranking = 186.14353521391keywords = vasopressin, antidiuretic, secretion (Clic here for more details about this article) |
9/28. A case report of hypodipsic hypernatremia syndrome associated with suprasellar tumor.A 20-year-old woman was diagnosed as hypodipsic hypernatremia syndrome in association with a variety of hypothalamic syndromes. Computed brain tomography disclosed a space occupying lesion over the region of the hypothalamus, lateral ventricle and paraventricles. Evaluation revealed defective osmoregulation of thirst and AVP release and hypothalamic syndrome. She showed no desire to drink at a plasma osmolality of above 320 mOsm/kg. Dissociation in the plasma vasopressin response to osmotic change and hemodynamic change was demonstrated in this patient. Treatment with a vasopressin analogue, desamino-D-arginine vasopressin and forced intake of water restored plasma osmolality and serum sodium levels to normal. In this case, selective osmoregulating dysfunction was presumably associated with pathologic conditions in or around the hypothalamus.- - - - - - - - - - ranking = 66.709808449806keywords = vasopressin (Clic here for more details about this article) |
10/28. dehydration in the elderly: insidious and manageable.dehydration in the elderly results from inadequate water replacement, and associated mortality may be high when dehydration is severe. The elderly are at an elevated risk for dehydration, due to decreased thirst perception, decreased water intake, abnormal vasopressin responses to osmotic stimuli, and a predisposition to mild nephrogenic diabetes insipidus. In addition, elderly patients with chronic physical and/or mental disabilities are often unable to drink or obtain water themselves. For these high-risk patients, the physician's role is to initiate measures to prevent dehydration, including fluid orders and intake documentation.- - - - - - - - - - ranking = 22.236602816602keywords = vasopressin (Clic here for more details about this article) |
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