Postnatal Development of Renal Concentration Capacity as Estimated by DDAVP-Test in Normal and Asphyxiated Neonates

Svenningsen, N. W.; Aronson, A. Stefan

doi:10.1159/000240695

Cited by 89 publications

(24 citation statements)

References 11 publications

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“…Therefore, the test results for individual II-1 may have been falsely negative, reflecting the pharmacological difficulties with pitressin in an era before the availability of DDAVP. The nonresponse in III-10 was initially ascribed to his age, as his 1st DDAVP test was at the gestational age of 36 weeks, a time when NDI is physiologic [19,20,21]. However, not only was he clinically more severely affected than the other patients in this family, he also showed no response to DDAVP at the age of 10 months, an age when urinary concentrating ability has usually matured.…”

Section: Discussionmentioning

confidence: 99%

Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus

et al. 2009

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Background/Aims: Mutations in the type 2 vasopressin receptor gene (AVPR2) underlie X-linked recessive nephrogenic diabetes insipidus (NDI). Here, we report on a family with a mutation in AVPR2, c.262G>A (p.V88M). This recurrently identified mutation was previously shown to abolish AVPR2 function, yet in some affected members, urine osmolalities of up to 570 mosm/kg were observed. We detail the variable clinical phenotype and investigate its molecular basis. Methods: Retrospective analysis of clinical data and in vitro assessment of wild-type and V88M-mutant receptors. Results: Clinical data were available on 6 patients. Four of these demonstrated a substantial increase in urinary concentration after 1-desamino[8-D-arginine] vasopressin, consistent with partial NDI, while 2 did not respond. In vitro analysis revealed a reduced cell surface expression and decreased binding affinity for arginine-vasopressin of the mutant receptor, leading to blunted signaling activity. Treatment with the pharmacological chaperone SR121463 enhanced cell surface expression. Conclusion: The V88M mutation is associated with phenotypical diversity, which may be explained by the fact that both the expression level and the hormone-binding affinity are affected by the mutation. Our results provide a rational basis for treatment trials with vasopressin analogues in combination with pharmacologic chaperones in patients with this recurrently identified mutation.

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Section: Discussionmentioning

confidence: 99%

Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus

et al. 2009

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“…In prematurity (particularly when combined with asphyxia), urine is reported to be mostly hypotonic (12). It is interesting that as a neonate, despite the presence of the mutation, patient V.9 was able to dilute his urine to a very low osmolality (94 mOsm/kg at day 16), thereby protecting him from episodes of hyponatremia.…”

Section: Discussionmentioning

confidence: 99%

Nephrogenic Syndrome of Inappropriate Antidiuresis in Adults

Decaux¹,

Vandergheynst²,

Bouko³

et al. 2007

Journal of the American Society of Nephrology

139

102

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Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently described genetic cause of hyponatremia in male infants. Whether this X-linked condition could be detected in the adult or also could affect women is unknown. A large five-generation family was identified in which the recently described arginine-vasopressin receptor type 2 (AVPR2) mutation that is responsible for NSIAD was segregated. The proband was a 74-yr-old patient who had a syndrome of inappropriate antidiuresis and whose hyponatremia resisted administration of two AVPR2 antagonists. The phenotype of family members who carry the mutation was investigated. Patients with normal serum sodium were subjected to a water-load test. The previously reported activating missense R137C mutation in the AVPR2 gene in three hemizygous male and four heterozygous female individuals was identified. Except in one woman, spontaneous episodes of hyponatremia or abnormal water-load test were identified in all patients with the mutation, whether male or female. Skewed X inactivation was evidenced in the blood of the asymptomatic woman, which is compatible with preferential inactivation of her mutated allele. NSIAD is not limited to male infants. The diagnosis also should be considered in both male and female adults.

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“…Additional clinical or biochemical signs of hypo(hyper)-hydration are necessary to diagnose hypo(hyper)-hydration in a subject of this life stage and gender group. Figure 2 Mean values of maximum and minimum urine osmolality in standardised tests of renal concentrating and diluting capacity according to postnatal age, gestational age (preterm and term infants) and nutrition (human milk, cow's milk, cow's milk formula , humanised formula, beikost): (K) human milk in preterm infants (Smith et al, 1949;Fisher et al, 1963), (') human milk in term infants (McCance and Widdowson, 1954;Janovsky et al, 1968;Marild et al, 1992), (&) humanised formula (Edelmann et al, 1960;Janovsky et al, 1968;Svenningsen and Aronson, 1974;Marild et al, 1992) ( ) cow's milk and cow's milk formula (Pratt et al, 1948;Barnett et al, 1952;Hansen and Smith, 1953;Edelmann et al, 1960;Drescher et al, 1962;Polacek et al, 1965;Janovsky et al, 1968), ( þ ) formula and beikost (Polacek et al, 1965;Rodriguez-Soriano et al, 1981;Assadi, 1990), (-) regression line (Winberg, 1959); (K-K; N-) repeated tests in the same infants; 830 mosm/kg: mean À2 s.d. of maximum Uosm in healthy children and adolescents consuming a typical affluent Western-type diet; 285 mosm/kg: mean plasma osmolality.…”

Section: Definition Of Euhydrationmentioning

confidence: 99%

24-h hydration status: parameters, epidemiology and recommendations

2003

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Hydration of individuals and groups is characterised by comparing actual urine osmolality (Uosm) with maximum Uosm. Data of actual, maximum and minimum Uosm in infants, children and adults and its major influencing factors are reviewed. There are remarkable ontogenetic, individual and cultural differences in Uosm. In the foetus and the breast-fed infant Uosm is much lower than plasma osmolality, whereas in children and adults it is usually much higher. Individuals and groups may show long-term differences in Uosm. In industrialised countries, the gender difference of Uosm is common. There are large intercultural differences of mean 24-h Uosm ranging from 860 mosm/kg in Germany, 649 mosm/kg in USA to 392 mosm/kg in Poland. A new physiologically based concept called 'free-water reserve' quantifies differences in 24-h euhydration. In 189 boys of the DONALD Study aged 4.0-6.9 y, median urine volume was 497 ml/24-h and median Uosm 809 mosm/kg. Considering meanÀ2 s.d. of actual maximum 24-h Uosm of 830 mosm/kg as upper level of euhydration and physiological criterion of adequate hydration in these boys, median free-water reserve was 11 ml/24-h. Based on median total water intake of 1310 ml/ 24-h and the third percentile of free-water volume of À156 ml/24-h, adequate total water intake was 1466 ml/24-h or 1.01 ml/ kcal. Data of Uosm in 24-h urine samples and corresponding free-water reserve values of homogeneous groups of healthy subjects from all over the world might be useful parameters in epidemiology to investigate the health effects of different levels of 24-h euhydration.

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Postnatal Development of Renal Concentration Capacity as Estimated by DDAVP-Test in Normal and Asphyxiated Neonates

Cited by 89 publications

References 11 publications

Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus

Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus

Nephrogenic Syndrome of Inappropriate Antidiuresis in Adults

24-h hydration status: parameters, epidemiology and recommendations

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