Primary adrenal insufficiency: case study IN 5 tertiary hospitals
Introduction: Primary adrenal insufficiency (PAI) in children is a rare condition characterized by deficient production of glucocorticoids and/or mineralocorticoids. The clinical manifestations are nonspecific and insidious. Providers need to know about this disorder to be able to make an early diag...
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| Format: | Article |
| Language: | Spanish |
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Elsevier
2024-11-01
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| Series: | Anales de Pediatría (English Edition) |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2341287924002680 |
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| author | María Teresa Ovejero García Blanca Sáez Gallego Ana Coral Barreda Bonís Jesús Domínguez Riscart María Beatriz Garnier Rodríguez Ruth Molina Suárez Antonio De Arriba Muñoz |
| author_facet | María Teresa Ovejero García Blanca Sáez Gallego Ana Coral Barreda Bonís Jesús Domínguez Riscart María Beatriz Garnier Rodríguez Ruth Molina Suárez Antonio De Arriba Muñoz |
| author_sort | María Teresa Ovejero García |
| collection | DOAJ |
| description | Introduction: Primary adrenal insufficiency (PAI) in children is a rare condition characterized by deficient production of glucocorticoids and/or mineralocorticoids. The clinical manifestations are nonspecific and insidious. Providers need to know about this disorder to be able to make an early diagnosis, as appropriate management can be life-saving. Methods: We conducted a multicentre retrospective study including every patient aged less than 18 years given a diagnosis of PAI in the last 30 years at 5 Spanish hospitals. Objectives: The objective was to determine the aetiologies, signs, symptoms and laboratory findings of PAI in the paediatric age group. Results: Twenty nine patients received a diagnosis of PAI at a median age of 5.6 years. An aetiological diagnosis was established in 23 patients (79.3%): X-linked adrenoleukodystrophy in 8 (27.6%), autoimmune adrenalitis in 6 (20.7%), X-linked adrenal hypoplasia congenita in 4 (13.8%), adrenocorticotropic hormone (ACTH) resistance syndrome in 2 (6.9%), Pearson syndrome in 2 (6.9%) and Allgrove syndrome in 1 (3.4%). In the remaining 6 patients, no clear aetiology was identified. Sixteen patients (55.2%) had onset with an adrenal crisis. Twenty patients (69%) needed combination therapy (hydrocortisone and fludrocortisone). Conclusions: Asthenia, hyperpigmentation and hyponatraemia were the most prevalent sign, symptom and electrolyte abnormality at onset of PAI, although their absence does not rule out this disease. The elevation of ACTH persists despite adequate glucocorticoid replacement therapy. Resumen: Introducción: La insuficiencia suprarrenal primaria (ISP) es una enfermedad rara en niños caracterizada por la incapacidad en la producción de glucocorticoides y/o mineralocorticoides. Las manifestaciones clínicas son inespecíficas e insidiosas. Debemos conocer esta enfermedad para poder realizar un diagnóstico precoz, ya que el correcto manejo de la enfermedad puede salvar vidas. Diseño: Se ha realizado un estudio multicéntrico y retrospectivo, registrándose todos los pacientes diagnosticados de ISP (menores de 18 años) en los últimos 30 años de 5 hospitales españoles. Objetivos: Determinar la etiología, signos, síntomas y alteraciones analíticas en la insuficiencia suprarrenal primaria en la edad pediátrica. Resultados: Veintinueve pacientes fueron diagnosticados de ISP, con una mediana de 5,6 años. Se logró emitir un diagnóstico etiológico en 23 pacientes (79,3%): encontramos 8 casos de adrenoleucodistrofia ligada al cromosoma X (27,6%), 6 adrenalitis autoinmunes (20,7%), 4 hipoplasias suprarrenales congénitas ligadas al X (13,8%), 2 síndromes de resistencia a la ACTH (6,9%), 2 pacientes con síndrome de Pearson (6,9%) y un paciente con síndrome de Allgrove (3,4%). En los otros 6 pacientes, la etiología es desconocida por el momento. Dieciséis pacientes (55,2%) debutaron en forma de crisis adrenal. Veinte pacientes (69%) precisaron tratamiento combinado (hidrocortisona y fludrocortisona). Conclusiones: La astenia, la hiperpigmentación cutánea y la hiponatremia fueron el síntoma, el signo y la alteración electrolítica más frecuentes al debut, aunque su ausencia, no descarta una ISP. La ACTH (hormona adrenocorticotropa) permanece elevada a pesar de un correcto tratamiento con glucocorticoides. |
| format | Article |
| id | doaj-art-4c7e297f6c6c426698f57c2839cf6e7b |
| institution | Kabale University |
| issn | 2341-2879 |
| language | Spanish |
| publishDate | 2024-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Anales de Pediatría (English Edition) |
| spelling | doaj-art-4c7e297f6c6c426698f57c2839cf6e7b2024-11-21T06:04:03ZspaElsevierAnales de Pediatría (English Edition)2341-28792024-11-011015303309Primary adrenal insufficiency: case study IN 5 tertiary hospitalsMaría Teresa Ovejero García0Blanca Sáez Gallego1Ana Coral Barreda Bonís2Jesús Domínguez Riscart3María Beatriz Garnier Rodríguez4Ruth Molina Suárez5Antonio De Arriba Muñoz6Hospital Universitario de Canarias, San Cristóbal de La Laguna, Santa Cruz de Tenerife. Spain; Corresponding author.Hospital Universitario de Canarias, San Cristóbal de La Laguna, Santa Cruz de Tenerife. SpainHospital Universitario La Paz, Madrid, SpainHospital Universitario Puerta del Mar, Cádiz, SpainHospital Universitario de Canarias, San Cristóbal de La Laguna, Santa Cruz de Tenerife. SpainHospital Universitario de Canarias, San Cristóbal de La Laguna, Santa Cruz de Tenerife. SpainHospital Universitario Miguel Servet, Zaragoza, SpainIntroduction: Primary adrenal insufficiency (PAI) in children is a rare condition characterized by deficient production of glucocorticoids and/or mineralocorticoids. The clinical manifestations are nonspecific and insidious. Providers need to know about this disorder to be able to make an early diagnosis, as appropriate management can be life-saving. Methods: We conducted a multicentre retrospective study including every patient aged less than 18 years given a diagnosis of PAI in the last 30 years at 5 Spanish hospitals. Objectives: The objective was to determine the aetiologies, signs, symptoms and laboratory findings of PAI in the paediatric age group. Results: Twenty nine patients received a diagnosis of PAI at a median age of 5.6 years. An aetiological diagnosis was established in 23 patients (79.3%): X-linked adrenoleukodystrophy in 8 (27.6%), autoimmune adrenalitis in 6 (20.7%), X-linked adrenal hypoplasia congenita in 4 (13.8%), adrenocorticotropic hormone (ACTH) resistance syndrome in 2 (6.9%), Pearson syndrome in 2 (6.9%) and Allgrove syndrome in 1 (3.4%). In the remaining 6 patients, no clear aetiology was identified. Sixteen patients (55.2%) had onset with an adrenal crisis. Twenty patients (69%) needed combination therapy (hydrocortisone and fludrocortisone). Conclusions: Asthenia, hyperpigmentation and hyponatraemia were the most prevalent sign, symptom and electrolyte abnormality at onset of PAI, although their absence does not rule out this disease. The elevation of ACTH persists despite adequate glucocorticoid replacement therapy. Resumen: Introducción: La insuficiencia suprarrenal primaria (ISP) es una enfermedad rara en niños caracterizada por la incapacidad en la producción de glucocorticoides y/o mineralocorticoides. Las manifestaciones clínicas son inespecíficas e insidiosas. Debemos conocer esta enfermedad para poder realizar un diagnóstico precoz, ya que el correcto manejo de la enfermedad puede salvar vidas. Diseño: Se ha realizado un estudio multicéntrico y retrospectivo, registrándose todos los pacientes diagnosticados de ISP (menores de 18 años) en los últimos 30 años de 5 hospitales españoles. Objetivos: Determinar la etiología, signos, síntomas y alteraciones analíticas en la insuficiencia suprarrenal primaria en la edad pediátrica. Resultados: Veintinueve pacientes fueron diagnosticados de ISP, con una mediana de 5,6 años. Se logró emitir un diagnóstico etiológico en 23 pacientes (79,3%): encontramos 8 casos de adrenoleucodistrofia ligada al cromosoma X (27,6%), 6 adrenalitis autoinmunes (20,7%), 4 hipoplasias suprarrenales congénitas ligadas al X (13,8%), 2 síndromes de resistencia a la ACTH (6,9%), 2 pacientes con síndrome de Pearson (6,9%) y un paciente con síndrome de Allgrove (3,4%). En los otros 6 pacientes, la etiología es desconocida por el momento. Dieciséis pacientes (55,2%) debutaron en forma de crisis adrenal. Veinte pacientes (69%) precisaron tratamiento combinado (hidrocortisona y fludrocortisona). Conclusiones: La astenia, la hiperpigmentación cutánea y la hiponatremia fueron el síntoma, el signo y la alteración electrolítica más frecuentes al debut, aunque su ausencia, no descarta una ISP. La ACTH (hormona adrenocorticotropa) permanece elevada a pesar de un correcto tratamiento con glucocorticoides.http://www.sciencedirect.com/science/article/pii/S2341287924002680Insuficiencia suprarrenal primariaCrisis suprarenalGlucocorticoides |
| spellingShingle | María Teresa Ovejero García Blanca Sáez Gallego Ana Coral Barreda Bonís Jesús Domínguez Riscart María Beatriz Garnier Rodríguez Ruth Molina Suárez Antonio De Arriba Muñoz Primary adrenal insufficiency: case study IN 5 tertiary hospitals Anales de Pediatría (English Edition) Insuficiencia suprarrenal primaria Crisis suprarenal Glucocorticoides |
| title | Primary adrenal insufficiency: case study IN 5 tertiary hospitals |
| title_full | Primary adrenal insufficiency: case study IN 5 tertiary hospitals |
| title_fullStr | Primary adrenal insufficiency: case study IN 5 tertiary hospitals |
| title_full_unstemmed | Primary adrenal insufficiency: case study IN 5 tertiary hospitals |
| title_short | Primary adrenal insufficiency: case study IN 5 tertiary hospitals |
| title_sort | primary adrenal insufficiency case study in 5 tertiary hospitals |
| topic | Insuficiencia suprarrenal primaria Crisis suprarenal Glucocorticoides |
| url | http://www.sciencedirect.com/science/article/pii/S2341287924002680 |
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