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1.
Rev. chil. endocrinol. diabetes ; 14(2): 81-89, 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1283557

ABSTRACT

La Hiperplasia Suprarrenal Congénita (HSRC) corresponde a un grupo de defectos genéticos en la síntesis de cortisol. El 95% de ellas son debidas al déficit de 21-hidroxilasa por lo que nos referiremos solo a esta deficiencia. La hiperplasia suprarrenal congénita clásica (HSRC-C) debuta en recién nacidos o lactantes con insuficiencia suprarrenal primaria, diferentes grados de hiperandrogenismo clínico en mujeres y puede coexistir con hipotensión, hiperkalemia e hiponatremia si hay un déficit clínico de aldosterona. El objetivo de este artículo es actualizar el conocimiento y enfoques sugeridos para el manejo de la HSRC-C desde el inicio de sus controles en la etapa adulta. El diagnóstico diferencial en retrospectiva de la HSRC-C y la no clásica (HSRC-NC) a veces resulta difícil ya que esta enfermedad es un espectro fenotípico continuo. La insuficiencia suprarrenal y la dependencia a terapia corticoidal son los eventos principales para diferenciar estas dos patologías que tienen enfoques terapéuticos diferentes. El tratamiento de la HSRC-C en adultos abarca 2 objetivos primarios: la adecuada sustitución de la falla suprarrenal y el control de hiperandrogenismo mediante el uso de corticoides en sus dosis mínimas efectivas. En la mujer existen terapias complementarias para el control del hiperandrogenismo como anticonceptivos y otras que se encuentran en diferentes fases de investigación. Esto permite disminuir las dosis de corticoides en algunos casos. Es importante a la vez abordar tres objetivos secundarios: controlar el riesgo cardiometabólico propio de la enfermedad, evitar el sobre tratamiento corticoidal y manejar la infertilidad. La correcta monitorización del tratamiento en adultos tomando en cuenta los objetivos descritos permite una mejor calidad de vida en estos pacientes. Finalmente el consejo genético debe realizarse en todos los pacientes con HSRC que deseen fertilidad y en sus parejas. El estudio requiere de secuenciación del gen CYP21A2 y debe realizarse en un laboratorio de experiencia.


Congenital Adrenal Hyperplasia (CAH) are a group of genetic defects characterized by impaired cortisol synthesis. 95% of them are due to 21-hydroxylase deficiency. We will discuss only this enzyme's deficiency. Classic congenital adrenal hyperplasia (CAH-C) debuts in newborns or infants with primary adrenal insufficiency, some degree of clinical hyperandrogenism in newborn females, and can coexist with hypotension, hyperkalemia, and hyponatremia if there is a clinical aldosterone deficiency. The objective of this article is to update the knowledge and suggested approaches for the management of CAH-C from the beginning of its controls in the adult stage. The retrospective differential diagnosis of CAH-C and non-classical (CAH-NC) is sometimes difficult because this disease is a continuous phenotypic spectrum. Adrenal insufficiency and dependence on corticosteroid therapy are the main events to differentiate these two pathologies that have different therapeutic approaches. In adults, the treatment of CAH-C must include 2 primary objectives: adequate the replacement of adrenal failure and control of hyperandrogenism, through the use of corticosteroids in their minimum effective doses. In women there are complementary therapies for the control of hyperandrogenism, such as contraceptives and others that are in different phases of research. This makes it possible to reduce the doses of corticosteroids in some cases. It is important at the same time to address three secondary objectives: control the cardiometabolic risk of the disease secondary to corticosteroid treatment, avoid corticosteroid overtreatment and manage infertility. The correct monitoring of treatment in adults and taking in to account the objectives described, allows a better quality of life in these patients. Finally, genetic counseling must be carried out in all patients planning for children, with any type of CAH and in their partners. The study requires sequencing of the CYP21A2 gene and must be performed in a certified laboratory.


Subject(s)
Humans , Adrenal Hyperplasia, Congenital/therapy , Steroid 21-Hydroxylase , Adrenal Cortex Hormones/therapeutic use , Adrenal Insufficiency/etiology , Adrenal Insufficiency/therapy , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Metabolic Syndrome/prevention & control , Flutamide/therapeutic use , Genetic Counseling , Infertility/etiology , Infertility/therapy
2.
Rev. Hosp. Ital. B. Aires (2004) ; 40(3): 95-104, sept. 2020. ilus, tab
Article in Spanish | LILACS | ID: biblio-1128985

ABSTRACT

La relación entre inmunidad y cáncer es compleja. Las células tumorales desarrollan mecanismos de evasión a las respuestas del sistema inmunitario. Esta capacidad permite su supervivencia y crecimiento. La inmunoterapia ha transformado el tratamiento oncológico mejorando la respuesta inmunitaria contra la célula tumoral. Esta se basa en el bloqueo de los puntos de control inmunitario mediante anticuerpos monoclonales contra la molécula inhibidora CTLA-4 (antígeno 4 del linfocito T citotóxico [CTLA-4]) y la proteína 1 de muerte celular programada y su ligando (PD-1/PD-L1). Aunque los inhibidores de los puntos de control inmunitario (ICIs) son fármacos bien tolerados, tienen un perfil de efectos adversos conocido como eventos adversos inmunorrelacionados (EAI). Estos afectan varios sistemas, incluyendo las glándulas endocrinas. Los eventos adversos endocrinos más frecuentes son la disfunción tiroidea, la insuficiencia hipofisaria, la diabetes mellitus autoinmune y la insuficiencia suprarrenal primaria. El creciente conocimiento de estos efectos adversos endocrinos ha llevado a estrategias de tratamiento efectivo con el reemplazo hormonal correspondiente. El objetivo de esta revisión es reconocer la incidencia de estas nuevas endocrinopatías, la fisiopatología, su valoración clínica y el manejo terapéutico. (AU)


The relationship between immunity and cancer is complex. Tumor cells develop evasion mechanisms to the immune system responses. This ability allows their survival and progression. Immunotherapy has transformed cancer treatment by improving the immune response against tumor cells. This is achieved by blocking immune checkpoints with monoclonal antibodies against cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) and programmed cell death protein 1 and its ligand (PD-1 / PD-L1). Although the immune checkpoint inhibitors (ICIs) are well tolerated drugs, they have a profile of adverse effects known as immune-related adverse events (irAES). These involve diverse systems, including the endocrine glands. The most frequent endocrine immune-related adverse events are thyroid and pituitary dysfunction, autoimmune diabetes mellitus and primary adrenal insufficiency. The increasing knowledge of these irAES has led to effective treatment strategies with the corresponding hormonal replacement. The objective of this review is to recognize the incidence of these new endocrinopathies, the physiopathology, their clinical evaluation, and therapeutic management. (AU)


Subject(s)
Humans , Endocrine System Diseases/chemically induced , Immunotherapy/adverse effects , Thyroid Diseases/diagnosis , Thyroid Diseases/chemically induced , Thyroid Diseases/pathology , Thyroid Diseases/therapy , Thyroxine/administration & dosage , Triiodothyronine/therapeutic use , Adrenal Cortex Hormones/administration & dosage , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/chemically induced , Adrenal Insufficiency/pathology , Adrenal Insufficiency/therapy , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 1/chemically induced , Diabetes Mellitus, Type 1/pathology , Diabetes Mellitus, Type 1/therapy , Endocrine System Diseases/diagnosis , Endocrine System Diseases/physiopathology , Endocrine System Diseases/therapy , Hypophysitis/diagnosis , Hypophysitis/chemically induced , Hypophysitis/pathology , Hypophysitis/therapy , Glucocorticoids/administration & dosage , Insulin/therapeutic use , Methimazole/therapeutic use , Mineralocorticoids/therapeutic use , Antibodies, Monoclonal/therapeutic use , Neoplasms/immunology
3.
Rev. Assoc. Med. Bras. (1992) ; 62(8): 728-734, Nov. 2016. tab, graf
Article in English | LILACS | ID: biblio-829528

ABSTRACT

Summary Introduction: Acute adrenal insufficiency or addisonian crisis is a rare comorbidity in emergency; however, if not properly diagnosed and treated, it may progress unfavorably. Objective: To alert all health professionals about the diagnosis and correct treatment of this complication. Method: We performed an extensive search of the medical literature using specific search tools, retrieving 20 articles on the topic. Results: Addisonian crisis is a difficult diagnosis due to the unspecificity of its signs and symptoms. Nevertheless, it can be suspected in patients who enter the emergency room with complaints of abdominal pain, hypotension unresponsive to volume or vasopressor agents, clouding, and torpor. This situation may be associated with symptoms suggestive of chronic adrenal insufficiency such as hyperpigmentation, salt craving, and association with autoimmune diseases such as vitiligo and Hashimoto's thyroiditis. Hemodynamically stable patients may undergo more accurate diagnostic methods to confirm or rule out addisonian crisis. Delay to perform diagnostic tests should be avoided, in any circumstances, and unstable patients should be immediately medicated with intravenous glucocorticoid, even before confirmatory tests. Conclusion: Acute adrenal insufficiency is a severe disease that is difficult to diagnose. It should be part of the differential diagnosis in cases of hypotensive patient who is unresponsive to vasoactive agents. Therefore, whenever this complication is considered, health professionals should aim specifically at this pathology.


Resumo Introdução: a insuficiência adrenal aguda ou crise addisoniana é uma comorbidade rara na emergência; porém, se não diagnosticada e tratada de forma correta, pode evoluir de maneira desfavorável. Objetivo: alertar a todos os profissionais da saúde sobre o diagnóstico e tratamento corretos dessa complicação. Método: foi realizada uma ampla pesquisa na literatura médica, por meio de ferramentas específicas, sendo selecionados 20 artigos sobre o tema. Resultados: a crise addisoniana é de difícil diagnóstico pela inespecificidade de seus sinais e sintomas. No entanto, pode ser suspeitada em pacientes que chegam à emergência com queixa de dor abdominal, hipotensão não responsiva a volume ou a agentes vasopressores, obnubilação e torpor. Esse quadro pode vir associado a sintomas sugestivos de insuficiência adrenal crônica, como hiperpigmentação e avidez por sal, bem como a doenças autoimunes, como vitiligo e tireoidite de Hashimoto. Pacientes estáveis hemodinamicamente podem passar por métodos diagnósticos mais apurados para se confirmar ou descartar a crise addisoniana. Os exames diagnósticos não podem retardar, em hipótese alguma, o tratamento de pacientes instáveis, que deve ser iniciado imediatamente com glicocorticoide endovenoso, inclusive antes das provas confirmatórias. Conclusão: a insuficiência adrenal aguda é uma patologia grave e de difícil diagnóstico, que deve fazer parte do diagnóstico diferencial do médico ao atender um paciente hipotenso sem reposta à infusão de drogas vasoativas. Logo, na suspeita dessa complicação, o profissional não deve tardar a agir especificamente nessa patologia.


Subject(s)
Humans , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/therapy , Emergency Medical Services/standards , Addison Disease/diagnosis , Addison Disease/therapy , Clinical Protocols , Acute Disease , Adrenal Insufficiency/physiopathology , Diagnosis, Differential , Hypotension/diagnosis , Hypotension/therapy
4.
Rev. cuba. endocrinol ; 25(3): 231-236, sep.-dic. 2014.
Article in Spanish | LILACS, CUMED | ID: lil-736997

ABSTRACT

Las enfermedades adrenales tienen una incidencia y prevalencia no despreciable. Se presentan como situaciones agudas y crónicas. La cronicidad y su desarrollo están relacionados con los comportamientos y estilos de vida, e imponen afrontar exigencias terapéuticas que descansan en las decisiones que la persona asume ante su cuidado. Esta condición crónica puede transitar sin síntomas, y demanda una persona activa y responsable ante su cuidado diario, capaz y formada en los requerimientos de su enfermedad, adiestrada para los ajustes terapéuticos necesarios, y capacitada para actuar ante la presencia de un evento agudo. Los proveedores de salud deben establecer un contrato terapéutico con el enfermo. Este hecho requiere un saber hacer, en el cual el enfoque biosocial, las destrezas en la comunicación y las técnicas de enseñanza/aprendizaje resultan tan necesarias como la actualización clínica. La insuficiencia adrenal aguda puede presentarse de novo, o ser consecuencia del mal manejo de una condición crónica ya conocida. Se citan diversas causas, dentro de las que la omisión inadvertida del fármaco o el desarrollo concomitante de un padecimiento precipitante infeccioso o no, resultan las más frecuentes. Los pacientes con insuficiencia adrenal crónica necesitan estar educados para que sean capaces de desarrollar conocimientos, habilidades y conductas que permitan tomar decisiones acertadas ante posibles descompensaciones(AU)


Adrenal diseases have significant incidence and prevalence; they occur as acute chronic situations. Chronicity and development are both related to behaviours and lifestyles and impose therapeutic demands that lie in the decisions of the person in charge of the patient care. This chronic condition may appear without any symptom and requires an active responsible person for daily care of patients, capable and trained in disease requirements and in necessary therapeutic adjustments, and prepared to act when an acute event occurs. The health care providers should set a therapeutic contract with the patient. This fact requires "know-how" that includes biosocial approach, communicative dexterities and teaching/learning techniques, which are as necessary as the clinical update. The acute adrenal insufficiency may present de novo or results from wrong management of already known chronic condition. There are several causes such as the involuntary omission of medical drug or the concomitant development of a precipitating infective or non-infective illness, which are the most common. The patients suffering chronic adrenal insufficiency need education so that they may be able to acquire new pieces of knowledge, skills and behaviors that allow taking right decisions in the face of possible decompensation(AU)


Subject(s)
Humans , Adrenal Insufficiency/therapy , Health Knowledge, Attitudes, Practice , Patient Education as Topic/methods , Adrenal Insufficiency/epidemiology
5.
J. bras. med ; 101(5): 43-48, set.-out. 2013. tab
Article in Portuguese | LILACS | ID: lil-706145

ABSTRACT

A insuficiência adrenal (IA) consiste em síndrome clínica rara, decorrente da deficiência de glicocorticoides e/ou mineralocorticoides, podendo ser primária. A insuficiência adrenal aguda consiste em emergência endócrina rara, resultante da diminuição súbita do cortisol circulante, ou de aumento significativo da demanda por esse hormônio em pacientes com algum grau de disfunção adrenal, ocorrendo mais frequentemente no contexto da IA primária. O prognóstico da doença depende do reconhecimento e intervenção terapêutica precoces


Adrenal insuficiency (AI) consists of a rare clinical syndrome resulting from glucocorticoids and/or mineralocorticoids deficiency. Adrenal insufficiency may be primary. The acute AI is a rare endocrine emergency resulting from sudden decrease of circulating cortisol or, elevated demand for this hormone in patients with some degree of adrenal disfunction, occuring more frequently in primary AI. The prognosis depends on early recognition and precocious therapeutic intervention


Subject(s)
Humans , Male , Female , Glucocorticoids/deficiency , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/therapy , Mineralocorticoids/deficiency , Acute Disease , Adrenal Cortex/physiopathology , Addison Disease/therapy , Glucocorticoids/administration & dosage , Hydrocortisone/therapeutic use , Adrenocorticotropic Hormone , Mineralocorticoids/administration & dosage , Endocrine System/physiopathology , Clinical Laboratory Techniques/methods
6.
Article in English | IMSEAR | ID: sea-157393

ABSTRACT

This is the first reported case of Allgrove Syndrome in Paediatric Department, S. C. B. MCH in a six years old male child who presented with convulsion and altered sensorium. He had no tears since birth, dysphagia with regurgitation of food and later developed skin hyperpigmentation. Allgrove syndrome is a rare autosomal recessive syndrome characterized by progressive loss of cholinergic function resulting in alacrimia, achalasia cardia, addison’s disease and autonomic neuropathy. Early diagnosis will lead to significant reduction of morbidity and mortality which is usually due to unrecognized adrenal crisis.


Subject(s)
Addison Disease/complications , Addison Disease/diagnosis , Adrenal Insufficiency/complications , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/therapy , Child , Early Diagnosis , Esophageal Achalasia/complications , Esophageal Achalasia/diagnosis , Esophageal Achalasia/therapy , Humans , Male
8.
West Indian med. j ; 60(2): 225-228, Mar. 2011. ilus, tab
Article in English | LILACS | ID: lil-672757

ABSTRACT

A thirty-six-year old female with shock was found to be unconsciousness a few days after developing a respiratory infection. Her past medical history included autoimmune hypothyroidism. Her state of shock was not controlled by massive fluid resuscitation with a vasopressor and antibiotics. However, an infusion of 250 mg methylprednisolone dramatically improved her shock state. Further examination indicated secondary acute adrenal insufficiency. Adrenal insufficiency may complicate other endocrine disorders. Accordingly, a physician should consider hypoadrenocorticism, when patients are in a state ofrefractory shock in spite ofmassive infusion with a vasopressor, especially in patients with other endocrine disorders.


Una mujer de treinta y seis años en shock fue hallada inconsciente unos dias después de desarrollar una infección respiratoria. Los antecedentes en su historia clinica incluian hipotiroidismo autoinmune. Su estado de shock no fue controlado por la reanimación con liquidos masiva con un vasopresor y antibióticos. Sin embargo, una infusion de 250 mg metilprednisolona habia mejorado considerablemente su estado de shock. Un examen mas detenido indicó insuficiencia adrenal aguda secundaria. La insuficiencia adrenal puede complicar otros trastornos endocrinos. En consecuencia, un médico debe considerar la posibilidad de hipoadrenocorticismo, cuando los pacientes se encuentran en estado de shock refractario a pesar de una infusion masiva con un vasopresor, especialmente en el caso pacientes con otros trastornos endocrinos.


Subject(s)
Adult , Female , Humans , Adrenal Insufficiency/therapy , Shock/therapy , Acute Disease , Adrenal Insufficiency/complications , Multiple Organ Failure/etiology , Multiple Organ Failure/therapy , Shock/etiology
9.
Arch. argent. pediatr ; 108(2): 167-170, abr. 2010. tab
Article in Spanish | LILACS | ID: lil-548766

ABSTRACT

La insuficiencia suprarrenal aguda es un cuadro originado por deficiencia mineralocorticoidea o glucocorticoidea, cuyo no diagnóstico y adecuado tratamiento lleva a una emergenciagrave con riesgo para la vida del paciente. Se clasifica en insuficiencia suprarrenal primaria, que presenta en general compromiso glucocorticoideo y mineralocorticoideo, y secundaria,sin deficiencia mineralocorticoidea. Los pacientes pueden no presentar síntomas que alerten precozmente, comoanorexia, náuseas, astenia, vómitos y dolor abdominal. De no corregirse, aparecen hipotensión, hipoglucemia, hiponatremia con hipercaliemia, deshidratación y shock. Es indispensable,aun en caso de duda, corregir la hipovolemia, el desequilibrioelectrolítico y la hipoglucemia, y administrar glucocorticoidesa dosis de estrés. Superada la fase aguda, administrar la dosis de corticoides de mantenimiento y, en caso necesario, añadir mineralocorticoides.


Subject(s)
Humans , Male , Child , Adrenal Cortex Hormones/therapeutic use , Emergencies , Adrenal Insufficiency/classification , Adrenal Insufficiency/complications , Adrenal Insufficiency/prevention & control , Adrenal Insufficiency/therapy
10.
Rev. Soc. Argent. Endocrinol. Ginecol. Reprod ; 16(1): 48-57, mayo 2009. tab, graf
Article in Spanish | LILACS, BINACIS | ID: biblio-1171277

ABSTRACT

El objetivo de esta presentación es revisar la terapia androgénica en la mujer, para lo cual consideramos esencial revisar previamente la fisiología de los andrógenos. Estos son producidos por los ovarios y las glándulas suprarrenales y circulan unidos a proteínas transportadoras o en forma libre (activos). En los tejidos periféricos los andrógenos débiles pueden transformarse en andrógenos más potentes y aún en estrógenos. Los receptoresandrogénicos son activados sólo por la testosterona y la dihidrotestosterona y la respuesta del receptor varía según el número de repeticiones CAG del dominio N-terminal. Actúan principalmente a nivel muscular, óseo, piel y sistema nervioso central (libido). Las situaciones que cursan con déficit de andrógenos son la insuficiencia ovárica, la insuficiencia adrenal primaria o secundaria, la administración exógena de corticoides y de anticonceptivos orales, la anorexia nerviosa, los pacientes HIV de bajo peso y ¿el envejecimiento? La sospecha de insuficiencia androgénica en la mujer no se puede confirmar por laboratorio, siendo el síntoma más publicado y aceptado en el consenso de Princeton la disminución de la libido y del placer sexual. Los mayores esfuerzos para incorporar el tratgamiento androgénico en la mujer se han observado con la administración de dehidroepiandrosterona en la insuficiencia adrenal y en el hipopituitarismo y con la administración de testosterona en las mujeres con ooforectomía bilateral. La administración de DHEA oscila entre 25-50 mg/día en pacientes con insuficiencia suprarrenal e hipopituitarismo. La administración de testosterona por vía transdérmica presenta buenos resultados sobre libido y placer sexual con pocas manifestaciones adversas referidas sólo a la piel. Sin embargo, no disponemos en nuestro país de preparados farmacéuticos para su empleo en la mujer.


Subject(s)
Female , Humans , Middle Aged , Androgens/physiology , Adrenal Insufficiency/therapy , Receptors, Androgen/therapeutic use , Testosterone/therapeutic use
11.
Rev. méd. Chile ; 133(11): 1371-1380, nov. 2005. ilus, tab
Article in Spanish | LILACS | ID: lil-419942

ABSTRACT

The study of endocrine emergencies in childhood is important due to their high mortality and residual morbidity, that can be reduced with an adequate diagnosis and/or therapy. In this article, we review hypoglycemia, adrenal crisis, hypocalcemia, hypercalcemia and thyroid storm in children, with focus on initial diagnostic approach and management.


Subject(s)
Child , Child, Preschool , Humans , Infant , Infant, Newborn , Adrenal Insufficiency/diagnosis , Hypercalcemia/diagnosis , Hypocalcemia/diagnosis , Hypoglycemia/diagnosis , Thyroid Crisis/diagnosis , Acute Disease , Age Factors , Adrenal Insufficiency/etiology , Adrenal Insufficiency/therapy , Calcium/blood , Emergencies , Hypercalcemia/etiology , Hypercalcemia/therapy , Hypocalcemia/etiology , Hypocalcemia/therapy , Hypoglycemia/classification , Hypoglycemia/therapy , Severity of Illness Index , Thyroid Crisis/physiopathology , Thyroid Crisis/therapy
12.
Arq. bras. endocrinol. metab ; 41(2): 102-6, jun. 1997. tab
Article in Portuguese | LILACS | ID: lil-209298

ABSTRACT

Adrenoleucodistrofia (ALD) é uma doença desmielinizante do sistema nervoso central freqüentemente associada à insuficiência adrenal (IA) primária. Devido a um defeito genético, näo ocorre a oxidaçäo dos ácidos graxos saturados de cadeia muito longa (AGSCML), os quais se acumulam na forma de ésteres de colesterol na substância branca cerebral e no córtex adrenal. O fenótipo mais comum da ALD é a forma cerebral (cerca de 45 por cento) que se desenvolve em indivíduos do sexo masculino entre 5 e 12 anos. A IA primária pode ser a única manifestaçäo do distúrbio em 6 a 8 por cento dos casos. Apresentamos dois irmäos, 8 e 5 anos, masculinos, portadores de adrenoleucodistrofia ligada ao X, associada à insuficiência adrenal primária. O propósito iniciou com mudança comportamental e alteraçöes cognitivas há dois anos. A avaliaçäo já apresentava dismielinizaçäo importante do sistema nervoso central, com déficit neurológico e escurecimento de pele. Os exames laboratoriais e de imagem evidenciaram níveis plasmáticos elevados de AGSCML, IA primária (aumento do ACTH, diminuiçäo da resposta do cortisol ao estímulo com ACTH e elevaçäo da atividade plasmática da renina) e acometimento cerebral. Concomitantemente, foi avaliado o irmäo do propósito, o qual era assintomático. Devido aos níveis de AGSCML, o paciente estava sendo tratado com o óleo de Lorenzo há um ano. Apesar deste tratamento, evoluiu com IA primária, sem outras manifestaçöes neurológicas de ALD. Relatamos o caso de dois irmäos portadores de ALD associada à IA primária.


Subject(s)
Humans , Male , Child, Preschool , Child , Adrenal Insufficiency/complications , Adrenoleukodystrophy/etiology , Fatty Acids/blood , Adrenal Insufficiency/therapy , Adrenoleukodystrophy/therapy , Addison Disease/complications , Addison Disease/therapy
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