Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 51
Filtrar
Mais filtros

Medicinas Complementares
Tipo de documento
Intervalo de ano de publicação
1.
Br J Oral Maxillofac Surg ; 59(8): 894-897, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34364712

RESUMO

Treatments facilitated by healthcare trusts are transformed into codes through which payments are organised. Accurate coding is essential for correct payment, inaccurate clinical coding results in significant loss of income. Our OMFS unit performs regular day-case procedures with data recorded in a standardised proforma. An audit was performed to determine the accuracy of ICD and OPCS codes generated by the OMFS department to identify factors contributing to inaccuracies leading to loss of income. All local anaesthetic and IV sedation cases were reviewed at two separate 3 monthly time frames within the OMFS department with 100 cases per cycle. A gold standard of 100% coding information recorded and accuracy were set. The first data cycle demonstrated a number of factors to improve the clinical coding process including implementing a new clinical coding form. This was utilised in the second audit cycle. Regarding ICD-10 the first audit cycle yielded a 65% accuracy of primary diagnoses. Following recommendations this improved to 72%. Coding accuracy in the first cycle was recorded as 62% with improvement to 78% in the second cycle. OPCS data accuracy was 80% in the first cycle improving to 90% in the second cycle. Secondary or bilateral procedures also showed improvement from 83% to 89% accuracy in the second cycle. Across the audit cycle £20,000 of revenue was generated. Inaccuracies in clinical coding reduces income, improved understanding of error sources can ensure income is commensurate with clinical activity.


Assuntos
Anestésicos Locais , Codificação Clínica , Anestesia Local , Procedimentos Cirúrgicos Eletivos , Humanos , Classificação Internacional de Doenças
2.
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1280432

RESUMO

Introducción: Varias enfermedades neurodegenerativas están asociadas a alteraciones en el metabolismo del folato, lo que tiene sustanciales implicaciones fisiopatológicas, clínicas y terapéuticas potenciales. Objetivo: Reflejar la relevancia del metabolismo del folato para enfermedades neurodegenerativas, destacando su significación fisiopatológica y clínica, y sus implicaciones terapéuticas. Material y métodos: Se consultaron las bases de datos especializadas en busca de artículos publicados hasta marzo de 2020. Se emplearon descriptores específicos y operadores booleanos. Se empleó la estrategia de búsqueda avanzada para la selección de los artículos, teniendo en cuenta la calidad metodológica o validez de los estudios. Desarrollo: Fueron identificadas evidencias de asociación entre alteraciones del metabolismo del folato y enfermedades neurodegenerativas. Se han identificado variantes en genes que codifican enzimas involucradas en el metabolismo del folato, y modificaciones en patrones de metilación de ADN, asociadas al riesgo o a la gravedad clínica de las enfermedades de Alzheimer, Parkinson, Huntington, Temblor Esencial y Ataxia Espinocerebelosa tipo 2. Fueron encontradas asociaciones entre enfermedades neurodegenerativas y alteraciones en los niveles de metabolitos del folato, y la frecuencia de micronúcleos. Se han realizado varios estudios observacionales o experimentales que indican que la suplementación con ácido fólico y vitaminas B6 y B12, tiene utilidad terapéutica potencial en el contexto de enfermedades neurodegenerativas. Conclusiones: El metabolismo del folato es de relevancia fisiopatológica, clínica y terapéutica para enfermedades neurodegenerativas. El uso de estrategias dirigidas a restaurar los niveles normales de folatos o de co-factores enzimáticos involucrados en el metabolismo del folato, o a reducir la acumulación de homocisteína, tiene potenciales aplicaciones terapéuticas en el contexto de estas enfermedades(AU)


Introduction: Several neurodegenerative disorders are associated with alterations in folate metabolism, having essential physiopathological, clinical and therapeutic implications. Objective: To assess the relevance of folate metabolism in neurodegenerative disorders, highlighting its physiopathological, clinical and therapeutic significance. Material and Methods: Specialized biomedical databases were searched for studies published up to March 2020. Descriptors and Boolean operators were used. Advanced search strategy was used for the selection of articles, taking into account the methodological quality and validity of the studies. Results: Strong evidence of the association between folate metabolism and neurodegenerative disorders were identified. Enzyme-coding genes involved in folate metabolism and epigenetic DNA modifications associated with increased risk or disease severity in Alzheimer´s, Parkinson´s, and Huntington´s diseases, Essential Tremor, and Spinocerebellar ataxia type 2 were also identified. Associations between neurodegenerative disorders and altered levels of folate metabolites and the frequency of micronuclei were found. A number of observational and experimental studies have demonstrated that the supplementation with folic acid and vitamin B6 and B12 has therapeutic potential in the context of neurodegenerative disorders. Conclusions: Folate metabolism is of physiopathological, clinical and therapeutic relevance for neurodegenerative disorders. The use of strategies to normalize folate levels or enzyme cofactors involved in folate metabolism or to reduce homocysteine levels has potential therapeutic applications for these disorders(AU)


Assuntos
Humanos , Masculino , Feminino , Índice de Gravidade de Doença , DNA , Doenças Neurodegenerativas/prevenção & controle , Ataxias Espinocerebelares , Epigenômica , Codificação Clínica , Ácido Fólico/uso terapêutico , Metabolismo , Ácido Fólico/metabolismo
4.
Am J Clin Pathol ; 156(4): 559-568, 2021 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-33769453

RESUMO

OBJECTIVES: Second-opinion pathology review identifies clinically significant diagnostic discrepancies for some patients. Discrepancy rates and laboratory-specific costs in a single health care system for patients referred from regional affiliates to a comprehensive cancer center ("main campus") have not been reported. METHODS: Main campus second-opinion pathology cases for 740 patients from eight affiliated hospitals during 2016 to 2018 were reviewed. Chart review was performed to identify changes in care due to pathology review. To assess costs of pathology interpretation, reimbursement rates for consultation Current Procedural Terminology billing codes were compared with codes that would have been used had the cases originated at the main campus. RESULTS: Diagnostic discrepancies were identified in 104 (14.1%) patients, 30 (4.1%) of which resulted in a change in care. In aggregate, reimbursement for affiliate cases was 65.6% of the reimbursement for the same cases had they originated at the main campus. High-volume organ systems with low relative consultation reimbursement included gynecologic, breast, and thoracic. CONCLUSIONS: Preventable diagnostic errors are reduced by pathology review for patients referred within a single health care system. Although the resulting changes in care potentially lead to overall cost savings, the financial value of referral pathology review could be improved.


Assuntos
Erros de Diagnóstico/prevenção & controle , Patologia Cirúrgica/economia , Encaminhamento e Consulta/economia , Codificação Clínica , Redução de Custos , Erros de Diagnóstico/economia , Humanos , Reembolso de Seguro de Saúde , Patologia Cirúrgica/organização & administração , Encaminhamento e Consulta/organização & administração , Estudos Retrospectivos
5.
Health Inf Manag ; 50(3): 128-139, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31500451

RESUMO

BACKGROUND: Classification of disease and interventions in traditional medicine (TM) is necessary for standardised coding of information. Currently, in Iran, there is no standard electronic classification system for disease and interventions in TM. OBJECTIVE: The current study aimed to develop a national framework for the classification of disease and intervention in Persian medicine based on expert opinion. METHOD: A descriptive cross-sectional study was carried out in 2018. The existing systems for the classification of disease and interventions in TM were reviewed in detail, and some of the structural and content characteristics were extracted for the development of the classification of Iranian traditional medicine. Based on these features, a self-administered questionnaire was developed. Study participants (25) were experts in the field of Persian medicine and health information management in Tehran medical universities. RESULTS: Main axes for the classification of disease and interventions were determined. The most important applications of the classification system were related to clinical coding, policymaking, reporting of mortality and morbidity data, cost analysis and determining the quality indicators. Half of the participants (50%) stated that the classification system should be designed by maintaining the main axis of the World Health Organization classification system and changing the subgroups if necessary. A computer-assisted coding system for TM was proposed for the current study. CONCLUSION: Development of this classification system will provide nationally comparable data that can be widely used by governments, national organisations and academic researchers.


Assuntos
Codificação Clínica , Medicina Tradicional , Estudos Transversais , Humanos , Irã (Geográfico) , Morbidade
6.
J Am Med Inform Assoc ; 27(5): 738-746, 2020 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-32364236

RESUMO

OBJECTIVE: To study the newly adopted International Classification of Diseases 11th revision (ICD-11) and compare it to the International Classification of Diseases 10th revision (ICD-10) and International Classification of Diseases 10th revision-Clinical Modification (ICD-10-CM). MATERIALS AND METHODS: : Data files and maps were downloaded from the World Health Organization (WHO) website and through the application programming interfaces. A round trip method based on the WHO maps was used to identify equivalent codes between ICD-10 and ICD-11, which were validated by limited manual review. ICD-11 terms were mapped to ICD-10-CM through normalized lexical mapping. ICD-10-CM codes in 6 disease areas were also manually recoded in ICD-11. RESULTS: Excluding the chapters for traditional medicine, functioning assessment, and extension codes for postcoordination, ICD-11 has 14 622 leaf codes (codes that can be used in coding) compared to ICD-10 and ICD-10-CM, which has 10 607 and 71 932 leaf codes, respectively. We identified 4037 pairs of ICD-10 and ICD-11 codes that were equivalent (estimated accuracy of 96%) by our round trip method. Lexical matching between ICD-11 and ICD-10-CM identified 4059 pairs of possibly equivalent codes. Manual recoding showed that 60% of a sample of 388 ICD-10-CM codes could be fully represented in ICD-11 by precoordinated codes or postcoordination. CONCLUSION: In ICD-11, there is a moderate increase in the number of codes over ICD-10. With postcoordination, it is possible to fully represent the meaning of a high proportion of ICD-10-CM codes, especially with the addition of a limited number of extension codes.


Assuntos
Classificação Internacional de Doenças , Codificação Clínica , Humanos , Organização Mundial da Saúde
7.
IEEE J Biomed Health Inform ; 24(5): 1469-1476, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31670684

RESUMO

The International Classification of Diseases (ICD) not only serves as the bedrock for health statistics but also provides a holistic overview of every health aspect of life. This study aims to facilitate the computer-assisted coding of the 11th revision of the ICD (ICD-11) by leveraging the data structures of ICD-11 and semantics in WordNet. First, a computer-assisted coding framework using WordNet and ICD-11 application programming interface (API) is proposed. Secondly, a network based on entity relations in ICD-11 and synonym sets in WordNet, called CodeNet, is developed. Thirdly, an algorithm for generating ICD-11 code candidates from CodeNet with two tuning parameters on the basis of the input of disease-related text is illustrated. Finally, the discharge summaries in the Medical Information Mart for Intensive Care III database and textual information from ICD-11 entities are used to evaluate the proposed method. Experimental results indicate that the proposed coding method achieves a precision of 84% and a recall of 89% relative to a precision of 65% and a recall of 81% achieved with the existing ICD-11 API. The proposed method also outperforms other methods in the literature by reducing a failure rate of up to 8% in ICD-11 coding. The proposed thresholds of similarity and percentage can be applied to tuning the performance of our method to meet different coding needs. In sum, improving the new structures of ICD-11 with the use of semantics in WordNet can help develop more reliable computer-aided coding systems for ICD-11 coders.


Assuntos
Codificação Clínica/métodos , Classificação Internacional de Doenças , Informática Médica/métodos , Processamento de Linguagem Natural , Semântica , Algoritmos , Humanos
8.
J Acad Nutr Diet ; 120(1): 134-145.e3, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31353317

RESUMO

The US health care system has been undergoing substantial changes in reimbursement for medical and nutrition services. These changes have offered opportunities and challenges for registered dietitian nutritionists (RDNs) to bill for medical nutrition therapy and other nutrition-related services. During the past 10 years, the Academy of Nutrition and Dietetics has periodically surveyed RDNs providing medical nutrition therapy in ambulatory care settings to learn about their knowledge and patterns of coding, billing, and payment for their services. In 2018, the Academy of Nutrition and Dietetics conducted the latest iteration of this survey. This article compares the results of the 2008, 2013, and 2018 surveys to examine changes in RDNs' knowledge of billing code use and reimbursement patterns over time; understand the potential influences on coding and billing practices in a changing health care environment; and understand the effects of newer practice settings and care delivery models on billing and reimbursement for medical nutrition therapy services. Results from these surveys demonstrate that during the past 10 years RDNs' knowledge of billing and coding has been stable and very low for RDNs not in supervisory roles or private practice. RDNs reported an increase in providing medical nutrition therapy services to patients with multiple conditions. Since 2013, a dramatic increase was noted in the reported proportion of reimbursement from private/commercial health insurance plans. Results also indicate that most RDNs are not aware of changes in health care payment. Individual RDNs need to understand and be held accountable for the business side of practice and their value proposition in today's health care environment.


Assuntos
Codificação Clínica/tendências , Atenção à Saúde/tendências , Reembolso de Seguro de Saúde/tendências , Terapia Nutricional/tendências , Nutricionistas/tendências , Adulto , Dietética/tendências , Feminino , Humanos , Conhecimento , Masculino , Pessoa de Meia-Idade , Nutricionistas/psicologia , Inquéritos e Questionários , Estados Unidos
9.
J Gen Intern Med ; 34(10): 2150-2158, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31367872

RESUMO

BACKGROUND: Although collaborative care (CoCM) is an evidence-based and widely adopted model, reimbursement challenges have limited implementation efforts nationwide. In recent years, Medicare and other payers have activated CoCM-specific codes with the primary aim of facilitating financial sustainability. OBJECTIVE: To investigate and describe the experiences of early adopters and explorers of Medicare's CoCM codes. DESIGN AND PARTICIPANTS: Fifteen interviews were conducted between October 2017 and May 2018 with 25 respondents representing 12 health care organizations and 2 payers. Respondents included dually boarded medicine/psychiatry physicians, psychiatrists, primary care physicians (PCPs), psychologists, a registered nurse, administrative staff, and billing staff. APPROACH: A semi-structured interview guide was used to address health care organization characteristics, CoCM services, patient consent, CoCM operational components, and CoCM billing processes. All interviews were recorded, transcribed, coded, and analyzed using a content analysis approach conducted jointly by the research team. KEY RESULTS: Successful billing required buy-in from key, interdisciplinary stakeholders. In planning for CoCM billing implementation, several organizations hired licensed clinical social workers (LICSWs) as behavioral health care managers to maximize billing flexibility. Respondents reported a number of consent-related difficulties, but these were not primary barriers. Workflow changes required for billing the CoCM codes (e.g., tracking cumulative treatment minutes, once-monthly code entry) were described as arduous, but also stimulated creative solutions. Since CoCM codes incorporate the work of the psychiatric consultant into one payment to primary care, organizations employed strategies such as inter-departmental ledger transfers. When challenges arose from variations in the local payer mix, some organizations billed CoCM codes exclusively, while others elected to use a mixture of CoCM and traditional fee-for-service (FFS) codes. For most organizations, it was important to demonstrate financial sustainability from the CoCM codes. CONCLUSIONS: With deliberate planning, persistence, and widespread organizational buy-in, successful utilization of newly available FFS CoCM billing codes is achievable.


Assuntos
Codificação Clínica/organização & administração , Prestação Integrada de Cuidados de Saúde/organização & administração , Atenção Primária à Saúde/organização & administração , Prestação Integrada de Cuidados de Saúde/economia , Prática Clínica Baseada em Evidências/organização & administração , Planos de Pagamento por Serviço Prestado/organização & administração , Humanos , Liderança , Medicare , Serviços de Saúde Mental/organização & administração , Pesquisa Qualitativa , Estados Unidos
10.
Pharmacoepidemiol Drug Saf ; 28(10): 1361-1368, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31410932

RESUMO

PURPOSE: We validated an algorithm to detect frequency errors in computerized healthcare data and estimated the incidence of these errors in an integrated healthcare system. METHODS: We applied Sentinel System analytic tools on the electronic health records of Kaiser Permanente, Northern California, January 1, 2010, through May 30, 2015,to identify rheumatoid arthritis (RA) patients with new use of methotrexate (365-day baseline period). We identified potential methotrexate frequency errors using ICD-9 code 995.20 (adverse drug event), Current Procedural Terminology (CPT) code 96409 for injection of leucovorin and prescription refill patterns. We performed chart review to confirm the frequency errors, assessed performance for detecting frequency errors, and estimated the incidence of chart-confirmed errors. RESULTS: The study included 24,529 methotrexate dispensings among 3,668 RA patients. Among these, 722 (3%) had one dispensing and 23,807 (97.1%) had ≥2 dispensings during 1-year follow-up period. We flagged 653 (2.7%) with a potential medication error (46 with one dispensing and 607 with ≥2 dispensings). We sampled 94 for chart review, and confirmed three methotrexate errors. All three confirmed frequency errors involved a first methotrexate dispensing followed by injected rescue therapy, leucovorin, (positive predictive value, 60%; 95% confidence interval [CI], 15-95%). No potential errors were found among patients with ≥2 dispensings. We estimated the frequency error incidence among one methotrexate dispensing to be 0.4% (95%CI, 0.1% to 1.2%). CONCLUSION: Rescue therapy is a specific indicator of methotrexate overdose among first methotrexate dispensings. This method is generalizable to other medications with serious adverse events treated with antidotes.


Assuntos
Algoritmos , Antirreumáticos/efeitos adversos , Overdose de Drogas/epidemiologia , Erros de Medicação/estatística & dados numéricos , Metotrexato/efeitos adversos , Administração Oral , Antídotos , Antirreumáticos/administração & dosagem , Artrite Reumatoide/tratamento farmacológico , California/epidemiologia , Codificação Clínica/estatística & dados numéricos , Prestação Integrada de Cuidados de Saúde/estatística & dados numéricos , Esquema de Medicação , Overdose de Drogas/tratamento farmacológico , Registros Eletrônicos de Saúde/estatística & dados numéricos , Feminino , Humanos , Incidência , Classificação Internacional de Doenças , Leucovorina/administração & dosagem , Masculino , Erros de Medicação/efeitos adversos , Metotrexato/administração & dosagem , Pessoa de Meia-Idade , Vigilância de Produtos Comercializados/estatística & dados numéricos
11.
Artigo em Russo | MEDLINE | ID: mdl-31465664

RESUMO

In the article the main planned normative documents on an osteopathy are considered, recommendations about commission of scheduling of number of positions of osteopathic doctors on the basis of the data which are available in statistics on incidence taking into account the available systemic defects of coding on ICD-10 are made.


Assuntos
Codificação Clínica , Medicina Osteopática , Médicos Osteopáticos , Pessoal de Saúde , Humanos , Morbidade
12.
Perspect Health Inf Manag ; 16(Fall): 1f, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31908629

RESUMO

This is a case study of the evidence-based management practices of a centralized health information management (HIM) department in a large integrated healthcare delivery system. The case study used interviews and focus groups, as well as de-identified dashboards, to explore the impact of reporting on the organization. The dashboards and key performance indicators (KPIs) were initially developed in 2012 and have continued to evolve. The themes that resulted include the following: (1) evidence-based management is integral to the culture of the organization; (2) communicating regularly via dashboards and KPIs is key to transmitting the value of HIM to the entire organization; and (3) staff not only report the required measures for the dashboard but also take pride in it and often develop methods for tracking their individual performance. Most evidence supporting HIM operations management is related to coding and clinical documentation improvement, but even in those areas, national benchmarks are missing. It is important for the HIM profession to develop national and regional benchmarks to assist professionals in managing operations effectively and communicating their value to the healthcare industry.


Assuntos
Prestação Integrada de Cuidados de Saúde/organização & administração , Gestão da Informação em Saúde/organização & administração , Benchmarking , Codificação Clínica/normas , Comunicação , Prestação Integrada de Cuidados de Saúde/normas , Prática Clínica Baseada em Evidências/organização & administração , Gestão da Informação em Saúde/normas , Humanos , Entrevistas como Assunto , Estudos de Casos Organizacionais , Cultura Organizacional , Engajamento no Trabalho
15.
Diving Hyperb Med ; 47(2): 88-96, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28641321

RESUMO

INTRODUCTION: Recent Australian attempts to facilitate disinvestment in healthcare, by identifying instances of 'inappropriate' care from large Government datasets, are subject to significant methodological flaws. Amongst other criticisms has been the fact that the Government datasets utilized for this purpose correlate poorly with datasets collected by relevant professional bodies. Government data derive from official hospital coding, collected retrospectively by clerical personnel, whilst professional body data derive from unit-specific databases, collected contemporaneously with care by clinical personnel. AIM: Assessment of accuracy of official hospital coding data for hyperbaric services in a tertiary referral hospital. METHODS: All official hyperbaric-relevant coding data submitted to the relevant Australian Government agencies by the Royal Hobart Hospital, Tasmania, Australia for financial year 2010-2011 were reviewed and compared against actual hyperbaric unit activity as determined by reference to original source documents. RESULTS: Hospital coding data contained one or more errors in diagnoses and/or procedures in 70% of patients treated with hyperbaric oxygen that year. Multiple discrete error types were identified, including (but not limited to): missing patients; missing treatments; 'additional' treatments; 'additional' patients; incorrect procedure codes and incorrect diagnostic codes. Incidental observations of errors in surgical, anaesthetic and intensive care coding within this cohort suggest that the problems are not restricted to the specialty of hyperbaric medicine alone. Publications from other centres indicate that these problems are not unique to this institution or State. CONCLUSIONS: Current Government datasets are irretrievably compromised and not fit for purpose. Attempting to inform the healthcare policy debate by reference to these datasets is inappropriate. Urgent clinical engagement with hospital coding departments is warranted.


Assuntos
Codificação Clínica/estatística & dados numéricos , Oxigenoterapia Hiperbárica/estatística & dados numéricos , Austrália , Codificação Clínica/normas , Bases de Dados Factuais/estatística & dados numéricos , Doença da Descompressão/classificação , Doença da Descompressão/terapia , Complicações do Diabetes/classificação , Complicações do Diabetes/terapia , Embolia Aérea/classificação , Embolia Aérea/terapia , Gangrena Gasosa/terapia , Humanos , Doenças Maxilomandibulares/classificação , Doenças Maxilomandibulares/terapia , Necrose/terapia , Lesões por Radiação/classificação , Lesões por Radiação/terapia , Infecções dos Tecidos Moles/classificação , Infecções dos Tecidos Moles/terapia , Tasmânia , Fatores de Tempo
16.
Artigo em Inglês | WPRIM | ID: wpr-728768

RESUMO

Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon depolarizing potentials and play a major role in stabilization of resting membrane potentials in skeletal muscle. In this study, we report 4 unrelated Korean patients diagnosed with myotonia congenita and their clinical features. Sequence analysis of all coding regions of the patients was performed and mutation, R47W and A298T, was commonly identified. The patients commonly displayed transient muscle weakness and only one patient was diagnosed with autosomal dominant type of myotonia congenita. To investigate the pathological role of the mutation, electrophysiological analysis was also performed in HEK 293 cells transiently expressing homo- or heterodimeric mutant channels. The mutant channels displayed reduced chloride current density and altered channel gating. However, the effect of A298T on channel gating was reduced with the presence of R47W in the same allele. This analysis suggests that impaired CLC-1 channel function can cause myotonia congenita and that R47W has a protective effect on A298T in relation to channel gating. Our results provide clinical features of Korean myotonia congenita patients who have the heterozygous mutation and reveal underlying pathophyological consequences of the mutants by taking electrophysiological approach.


Assuntos
Humanos , Alelos , Canais de Cloreto , Codificação Clínica , Eletrofisiologia , Células HEK293 , Hipertrofia , Potenciais da Membrana , Debilidade Muscular , Músculo Esquelético , Miotonia Congênita , Miotonia , Relaxamento , Análise de Sequência
17.
Artigo em Inglês | WPRIM | ID: wpr-114917

RESUMO

Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.


Assuntos
Adolescente , Feminino , Humanos , Recém-Nascido , Córtex Suprarrenal , Hiperplasia Suprarrenal Congênita , Insuficiência Adrenal , Codificação Clínica , Hiperpigmentação , Hipogonadismo , Hipotálamo , Coreia (Geográfico) , Ovário , Hipófise , Mutação Puntual , Pele , Testículo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA