Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01185 (vasopressin)
 23,126 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three women with neurohypophyseal diabetes insipidus, treated for prolonged periods, including pregnancy, with L-deamino-8-d-arginine vasopressin, gave birth in our hospital. Two of the infants had severe congenital heart disease, one of which was associated with trisomy 21. The third baby, born prematurely, presented with mild intrauterine growth retardation; at the age of 21 months, the boy had severe failure to thrive, hypotonia, and motor retardation. These three cases raise doubts as to the safety of diabetes insipidus or its treatment in pregnancy.
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PMID:L-deamino-8-d-arginine vasopressin treatment in pregnancy and neonatal outcome. A report of three cases. 371 35

Renal tubular disorders include various clinical conditions wherein the renal tubular reabsorption of an ion or organic solute is significantly decreased. It may concern the renal handling of a single substance, such as glucose or phosphate, a group of substances or a combination of ions and organic substances. Close to this group of diseases, it is also possible to consider two conditions due to renal tubular resistance to vasopressin and parathyroid hormone: congenital nephrogenic diabetes insipidus and pseudohypoparathyroidisms, respectively. Clinically, the urinary loss of these substances may be inapparent, like in familial glucosuria, but in most cases, it may be responsible for characteristic disorders such as failure to thrive, dehydration, rickets, etc. Recently, physiological and molecular cloning studies have brought crucial information for testing candidate genes and understanding the underlying molecular bases of these disorders.
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PMID:[Non-lithiasic hereditary tubulopathies]. 936 15

Synthetic 1-deamino-8-D-arginine-vasopressin (DDAVP) is used in the management of diabetes insipidus (DI). We conducted a systematic literature review of DDAVP use during pregnancy, with particular attention to its safety for both mother and infant. Studies were identified through Ovid MEDLINE from 1976 to July 1997 using the combined terms "desmopressin," "DDAVP," and "pregnancy". Review articles and published letters were also explored. One hundred one articles were retrieved, of which 20 met all the inclusion criteria. Included in the 20 articles were 53 cases with the use of DDAVP for the management of DI. The therapeutic daily dose of DDAVP was approximately 29 micrograms intranasally (range 7.5-100 micrograms), with adequate DI control observed. Three of 14 women with sufficient information developed preeclampsia, a nonsignificant difference from the expected rate of 5 percent (the Fisher exact test, 2-P = .08). The mode of delivery was defined for 22 cases, with 16 uneventful vaginal births, and six cesarean delivery. There was no evidence of a drug interaction among the five women who received both DDAVP and intravenous oxytocin. Information was available on 49 live births born to DI mothers on DDAVP. The mean gestational age at delivery was 37.4 weeks (SD 1.3 weeks), with an estimated mean birth weight of 2963.8 gm (range 2000-4420 gm). Forty-three offspring were reported as healthy (event rate 87.8 percent; 95 percent CI 77.2-95.3 percent). Of the remaining six infants, one developed DI at 18 months of age; a second was under 2500 gm at birth, but survived; the third developed hypotonia and failure to thrive at 21 months, two others had Down syndrome; and the sixth died of severe cardiac anomalies. Similar data were seen among the 41 infants whose mothers had used DDAVP throughout pregnancy. In conclusion, DDAVP use during pregnancy seems to be safe for both mother and child. Delivery does not seem to be augmented by its use, nor are there likely any associated adverse neonatal effects. A large database of DDAVP use during pregnancy is needed to confirm these findings.
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PMID:DDAVP use during pregnancy: an analysis of its safety for mother and child. 966 31

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.
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PMID:Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report. 1240 44

A 1-month-old male infant presented with failure to thrive, polyuria, and severe hypernatremic dehydration. Based on family history, lack of response to vasopressin, and normal sonography of the urinary system, the diagnosis of congenital nephrogenic diabetes insipidus (cNDI) was established. The infant responded well to indomethacin in combination with hydrochlorothiazide (HCTZ), but quickly developed gastrointestinal bleeding. The substitution of indomethacin by amiloride and later by tolmetin was found to be ineffective. Treatment with HCTZ (3 mg/kg per day) and rofecoxib (1 mg/kg per day, both divided into three doses) combined with a low-salt formula resulted in a dramatic decrease in urinary free water losses. No side effects of the combination were noted. At age 8.5 months, the infant demonstrated catch-up growth and normal neurodevelopmental milestones. We conclude that the combination HCTZ/cyclooxygenase-2 inhibitor could be successfully used to treat infantile cNDI.
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PMID:Treatment of congenital nephrogenic diabetes insipidus by hydrochlorothiazide and cyclooxygenase-2 inhibitor. 1288 74

Diabetes Insipidus (DI) is a heterogeneous clinical syndrome of disturbance in water balance, characterized by polyuria (urine output > 4 ml/kg/hr), polydypsia (water intake > 2 L/m(2)/d) and failure to thrive. In children, Nephrogenic DI (NDI) is more common than Central DI (CDI), and is often acquired. The signs and symptoms vary with etiology, age at presentation and mode of onset. Neonates and infants with NDI are severely affected and difficult to treat. Diagnosis is based on the presence of high plasma osmolality and low urinary osmolality with significant water diuresis. Water deprivation test with vasopressin challenge, though has limitations, is done to differentiate NDI and CDI and diagnose their partial forms. Measurement of urinary aquaporin 2 and serum copeptin levels are being studied and show promising diagnostic potential. Magnetic Resonance Imaging (MRI) pituitary helps in the etiological diagnosis of CDI, absence of posterior pituitary bright signal being the pathognomic sign. If pituitary stalk thickening of < 2 mm is present, these children need to be monitored for evolving lesion. Neonates and young infants are better managed with fluids alone. Older children with CDI are treated with desmopressin. The oral form is safe, highly effective, with more flexibility of dosing and has largely replaced the intranasal form. In NDI besides treatment of the underlying cause, use of high calorie low solute diet and drugs to ameliorate water excretion (thiazide, amelioride, indomethacin) are useful. Children with NDI however well treated, remain short and have mental retardation on follow up.
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PMID:Management of diabetes insipidus in children. 2202 22

A 6-month-old male infant presented with failure to thrive. Hypernatraemia and elevated serum osmolality in the presence of low urine sodium and osmolality led to the diagnosis of diabetes insipidus. Administration of 1-deamino-8-D-arginine vasopressin (dDAVP) neither decreased urine volume nor increased urine osmolality indicating congenital nephrogenic diabetes insipidus. Molecular analysis in the arginine-vasopressin receptor-2 gene (AVPR2) located on chromosome Xq28 demonstrated a novel 5-base pair deletion (c.962-966delACCCC; g.1429-1433delACCCC) leading to a shift of the reading frame (p.Asn321fs) and a premature termination codon implying an absent or non-functional protein. Treatment with hydrochlorothiazide, amiloride and indomethacin led to a favourable clinical course.
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PMID:A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone. 2594 7

Nephrogenic diabetes insipidus (NDI) is a rare disorder of the renal collecting tubules, characterized by an inability to concentrate urine due to an impaired response to arginine vasopressin (AVP), resulting in dilute urine and polyuria. Causes of NDI are heterogeneous and diagnosing congenital NDI (cNDI) in young infants is clinically challenging, as typical symptoms are often unappreciated or inconspicuous. Instead, young infants may present with non-specific signs such as vomiting, poor feeding, failure to thrive, unexplained fevers, irritability, constipation or diarrhea. We report a 37-day-old infant who presented with polyuria and severe hypernatremic dehydration that was unresponsive to vasopressin. The patient was treated with amiloride, indomethacin and hydrochlorothiazide. Genetic analysis revealed a novel contiguous deletion involving the entire AVPR2 gene and the last exon of the adjacent ARHGAP4 gene. A study of the family confirmed the carrier status in the mother. This case illustrates the importance of molecular testing in confirming the diagnosis in the index patient, as well as in identifying asymptomatic at-risk female carriers so that appropriate genetic counselling can be given for reproductive planning. All pediatric patients with suspected cNDI should undergo genetic analysis for a definitive diagnosis.
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PMID:Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families. 3127 58