Valutazione clinica ed auxolcgica in pazienti con diagnosi molecolare di diabete insipido nefrogenico ad ereditarietà legata al cromosoma X

Translated title of the contribution: Clinical and auxological evaluation in patients with molecular diagnosis of X-linked nephrogenic diabetes insipidus

M. Procaccio, B. Chini, E. Albertazzi, S. Faranda, A. Frattini, P. Vezzoni, E. Fossali, A. C. Appiani, B. D I Natale, M. Lukesich, S. L I Volti, A. Rosini, S. Einaudi, C. Pecoraro, N. Miglietti, E. Razzoli, M. Maggi, A. Bettinelli

Research output: Contribution to journalArticle

Abstract

Congenital nephrogenic diabetes insipidits is a rare tubulopathy, characterized by resistance of the kidney to the antidiuretic hormone arginine vasopressin (AVP), resulting in polyuria and polydipsia. In literature, more patterns of inheritance have been described. The X-linked recessive form is the most frequent and it is caused by mutations in the gene encoding for the vasopressin V2 receptor (AVPR2). Objective Objective of our retrospective study was to evaluate clinical and auxological data in patients with NDI X-linked, confirmed by identiflcalion ofAVPR2 mutations. Results AVPR2 mutations have been found in 19 patients out of 23 considered. At the time of diagnosis the median age was 9 months; the main related symptoms were polyuria, pyressia and failure to thrive. These patients have been subjected to a pharmacological therapy and a diet with moderate salt restriction and, after a mean follow-up of 8 years, a significant improvement of the growth was demonstrated (p <0,05). The following mean changes of growth data (expressed as standard deviation scores), have been observed, comparing the data at time of diagnosis with the last follow-up control: weight from - 2,48 to - 0,4 (p = 0,002), height from - 1,76 to - 0,72 (p = 0,072;, weight for height from - 2,18 to 0,7 (p = 0,022). Conclusions The results showed that a significant recovery of growth in patients with molecolar diagnosis of X-linked NDI, may be obtained.

Original languageItalian
Pages (from-to)295-301
Number of pages7
JournalRivista Italiana di Pediatria
Volume26
Issue number2
Publication statusPublished - 2000

Fingerprint

Nephrogenic Diabetes Insipidus
Polyuria
Mutation
Growth
Polydipsia
Diet Therapy
Weights and Measures
Vasopressin Receptors
Failure to Thrive
Inheritance Patterns
Arginine Vasopressin
Vasopressins
Retrospective Studies
Salts
Pharmacology
Kidney
Genes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Valutazione clinica ed auxolcgica in pazienti con diagnosi molecolare di diabete insipido nefrogenico ad ereditarietà legata al cromosoma X. / Procaccio, M.; Chini, B.; Albertazzi, E.; Faranda, S.; Frattini, A.; Vezzoni, P.; Fossali, E.; Appiani, A. C.; Natale, B. D I; Lukesich, M.; Volti, S. L I; Rosini, A.; Einaudi, S.; Pecoraro, C.; Miglietti, N.; Razzoli, E.; Maggi, M.; Bettinelli, A.

In: Rivista Italiana di Pediatria, Vol. 26, No. 2, 2000, p. 295-301.

Research output: Contribution to journalArticle

Procaccio, M, Chini, B, Albertazzi, E, Faranda, S, Frattini, A, Vezzoni, P, Fossali, E, Appiani, AC, Natale, BDI, Lukesich, M, Volti, SLI, Rosini, A, Einaudi, S, Pecoraro, C, Miglietti, N, Razzoli, E, Maggi, M & Bettinelli, A 2000, 'Valutazione clinica ed auxolcgica in pazienti con diagnosi molecolare di diabete insipido nefrogenico ad ereditarietà legata al cromosoma X', Rivista Italiana di Pediatria, vol. 26, no. 2, pp. 295-301.
Procaccio, M. ; Chini, B. ; Albertazzi, E. ; Faranda, S. ; Frattini, A. ; Vezzoni, P. ; Fossali, E. ; Appiani, A. C. ; Natale, B. D I ; Lukesich, M. ; Volti, S. L I ; Rosini, A. ; Einaudi, S. ; Pecoraro, C. ; Miglietti, N. ; Razzoli, E. ; Maggi, M. ; Bettinelli, A. / Valutazione clinica ed auxolcgica in pazienti con diagnosi molecolare di diabete insipido nefrogenico ad ereditarietà legata al cromosoma X. In: Rivista Italiana di Pediatria. 2000 ; Vol. 26, No. 2. pp. 295-301.
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abstract = "Congenital nephrogenic diabetes insipidits is a rare tubulopathy, characterized by resistance of the kidney to the antidiuretic hormone arginine vasopressin (AVP), resulting in polyuria and polydipsia. In literature, more patterns of inheritance have been described. The X-linked recessive form is the most frequent and it is caused by mutations in the gene encoding for the vasopressin V2 receptor (AVPR2). Objective Objective of our retrospective study was to evaluate clinical and auxological data in patients with NDI X-linked, confirmed by identiflcalion ofAVPR2 mutations. Results AVPR2 mutations have been found in 19 patients out of 23 considered. At the time of diagnosis the median age was 9 months; the main related symptoms were polyuria, pyressia and failure to thrive. These patients have been subjected to a pharmacological therapy and a diet with moderate salt restriction and, after a mean follow-up of 8 years, a significant improvement of the growth was demonstrated (p <0,05). The following mean changes of growth data (expressed as standard deviation scores), have been observed, comparing the data at time of diagnosis with the last follow-up control: weight from - 2,48 to - 0,4 (p = 0,002), height from - 1,76 to - 0,72 (p = 0,072;, weight for height from - 2,18 to 0,7 (p = 0,022). Conclusions The results showed that a significant recovery of growth in patients with molecolar diagnosis of X-linked NDI, may be obtained.",
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T1 - Valutazione clinica ed auxolcgica in pazienti con diagnosi molecolare di diabete insipido nefrogenico ad ereditarietà legata al cromosoma X

AU - Procaccio, M.

AU - Chini, B.

AU - Albertazzi, E.

AU - Faranda, S.

AU - Frattini, A.

AU - Vezzoni, P.

AU - Fossali, E.

AU - Appiani, A. C.

AU - Natale, B. D I

AU - Lukesich, M.

AU - Volti, S. L I

AU - Rosini, A.

AU - Einaudi, S.

AU - Pecoraro, C.

AU - Miglietti, N.

AU - Razzoli, E.

AU - Maggi, M.

AU - Bettinelli, A.

PY - 2000

Y1 - 2000

N2 - Congenital nephrogenic diabetes insipidits is a rare tubulopathy, characterized by resistance of the kidney to the antidiuretic hormone arginine vasopressin (AVP), resulting in polyuria and polydipsia. In literature, more patterns of inheritance have been described. The X-linked recessive form is the most frequent and it is caused by mutations in the gene encoding for the vasopressin V2 receptor (AVPR2). Objective Objective of our retrospective study was to evaluate clinical and auxological data in patients with NDI X-linked, confirmed by identiflcalion ofAVPR2 mutations. Results AVPR2 mutations have been found in 19 patients out of 23 considered. At the time of diagnosis the median age was 9 months; the main related symptoms were polyuria, pyressia and failure to thrive. These patients have been subjected to a pharmacological therapy and a diet with moderate salt restriction and, after a mean follow-up of 8 years, a significant improvement of the growth was demonstrated (p <0,05). The following mean changes of growth data (expressed as standard deviation scores), have been observed, comparing the data at time of diagnosis with the last follow-up control: weight from - 2,48 to - 0,4 (p = 0,002), height from - 1,76 to - 0,72 (p = 0,072;, weight for height from - 2,18 to 0,7 (p = 0,022). Conclusions The results showed that a significant recovery of growth in patients with molecolar diagnosis of X-linked NDI, may be obtained.

AB - Congenital nephrogenic diabetes insipidits is a rare tubulopathy, characterized by resistance of the kidney to the antidiuretic hormone arginine vasopressin (AVP), resulting in polyuria and polydipsia. In literature, more patterns of inheritance have been described. The X-linked recessive form is the most frequent and it is caused by mutations in the gene encoding for the vasopressin V2 receptor (AVPR2). Objective Objective of our retrospective study was to evaluate clinical and auxological data in patients with NDI X-linked, confirmed by identiflcalion ofAVPR2 mutations. Results AVPR2 mutations have been found in 19 patients out of 23 considered. At the time of diagnosis the median age was 9 months; the main related symptoms were polyuria, pyressia and failure to thrive. These patients have been subjected to a pharmacological therapy and a diet with moderate salt restriction and, after a mean follow-up of 8 years, a significant improvement of the growth was demonstrated (p <0,05). The following mean changes of growth data (expressed as standard deviation scores), have been observed, comparing the data at time of diagnosis with the last follow-up control: weight from - 2,48 to - 0,4 (p = 0,002), height from - 1,76 to - 0,72 (p = 0,072;, weight for height from - 2,18 to 0,7 (p = 0,022). Conclusions The results showed that a significant recovery of growth in patients with molecolar diagnosis of X-linked NDI, may be obtained.

KW - Congenital nephrogenic diabetes insipidus

KW - Growth

KW - Vasopressin V2 receptor gene

KW - X-linked inheritance

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