SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION

SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION

Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease. This is a case report of a 2-month male infant having salt loss deficiency and classic congenital adrenal hyperplasia...

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Main Authors: Roxana Tanase, Alina Stoicescu, Elena Georgescu, Carmen Pascu, Serban Rogoz, Oana Falup-Pecurariu
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2017-12-01
Series:Romanian Journal of Pediatrics
Subjects:
congenital adrenal hyperplasia
glucocorticoid
21-hydroxilase
adrenal crisis
Online Access:https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2017-Nr.4/RJP_2017_4_EN_Art-05.pdf
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spelling doaj-176c3edbdecb492db61a884356b161672021-09-02T21:24:39ZengAmaltea Medical Publishing HouseRomanian Journal of Pediatrics1454-03982069-61752017-12-0166424324710.37897/RJP.2017.4.5SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION Roxana Tanase0 Alina Stoicescu1Elena Georgescu2Carmen Pascu3Serban Rogoz4 Oana Falup-Pecurariu5Brasov Emergency Children’s HospitalMedLife Brasov HospitalBrasov Emergency Children’s HospitalBrasov Emergency Children’s HospitalBrasov Emergency Children’s Hospital Brasov Emergency Children’s Hospital; Transilvania University BrasovCongenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease. This is a case report of a 2-month male infant having salt loss deficiency and classic congenital adrenal hyperplasia, without evident signs of virilization. The diagnosis was made based on the medical history of the family, on the clinical and biological data. The outcome can be favorable as long as the glucocorticoid replacement therapy is complied with. Moreover, adrenal crisis and major metabolic imbalance increase the risk of death.https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2017-Nr.4/RJP_2017_4_EN_Art-05.pdfcongenital adrenal hyperplasiaglucocorticoid21-hydroxilaseadrenal crisis
collection DOAJ
language English
format Article
sources DOAJ
author Roxana Tanase
Alina Stoicescu
Elena Georgescu
Carmen Pascu
Serban Rogoz
Oana Falup-Pecurariu
spellingShingle Roxana Tanase
Alina Stoicescu
Elena Georgescu
Carmen Pascu
Serban Rogoz
Oana Falup-Pecurariu
SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION
Romanian Journal of Pediatrics
congenital adrenal hyperplasia
glucocorticoid
21-hydroxilase
adrenal crisis
author_facet Roxana Tanase
Alina Stoicescu
Elena Georgescu
Carmen Pascu
Serban Rogoz
Oana Falup-Pecurariu
author_sort Roxana Tanase
title SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION
title_short SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION
title_full SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION
title_fullStr SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION
title_full_unstemmed SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION
title_sort severe metabolic disorder – cause of death at a newborn suffering from chronic condition
publisher Amaltea Medical Publishing House
series Romanian Journal of Pediatrics
issn 1454-0398
2069-6175
publishDate 2017-12-01
description Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease. This is a case report of a 2-month male infant having salt loss deficiency and classic congenital adrenal hyperplasia, without evident signs of virilization. The diagnosis was made based on the medical history of the family, on the clinical and biological data. The outcome can be favorable as long as the glucocorticoid replacement therapy is complied with. Moreover, adrenal crisis and major metabolic imbalance increase the risk of death.
topic congenital adrenal hyperplasia
glucocorticoid
21-hydroxilase
adrenal crisis
url https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2017-Nr.4/RJP_2017_4_EN_Art-05.pdf
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AT alinastoicescu severemetabolicdisordercauseofdeathatanewbornsufferingfromchroniccondition
AT elenageorgescu severemetabolicdisordercauseofdeathatanewbornsufferingfromchroniccondition
AT carmenpascu severemetabolicdisordercauseofdeathatanewbornsufferingfromchroniccondition
AT serbanrogoz severemetabolicdisordercauseofdeathatanewbornsufferingfromchroniccondition
AT oanafaluppecurariu severemetabolicdisordercauseofdeathatanewbornsufferingfromchroniccondition
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