{"id":7400,"date":"2025-12-14T12:28:48","date_gmt":"2025-12-14T12:28:48","guid":{"rendered":"https:\/\/cureclcn4.org\/caracteristicas-clinicas\/"},"modified":"2026-01-06T19:21:46","modified_gmt":"2026-01-06T19:21:46","slug":"caracteristicas-clinicas","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/pt-br\/caracteristicas-clinicas\/","title":{"rendered":"Caracter\u00edsticas cl\u00ednicas"},"content":{"rendered":"

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Caracter\u00edsticas cl\u00ednicas<\/h2>\n

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O fen\u00f3tipo cl\u00ednico da condi\u00e7\u00e3o relacionada ao CLCN4 pode incluir defici\u00eancia intelectual ou dificuldades espec\u00edficas de aprendizagem, caracter\u00edsticas autistas, maior chance de depress\u00e3o e ansiedade, hipotonia infantil, epilepsia, dist\u00farbios motores, incluindo dist\u00farbios da marcha, altera\u00e7\u00f5es na subst\u00e2ncia branca em imagens cerebrais, dificuldades alimentares, baixa estatura\/falha no crescimento e anormalidades funcionais do intestino.<\/p>\n

At\u00e9 agora, foram publicadas informa\u00e7\u00f5es cl\u00ednicas sobre 122 pessoas com uma altera\u00e7\u00e3o no gene CLCN4 (veja as publica\u00e7\u00f5es<\/a>). Mais pessoas v\u00e3o ser diagnosticadas \u00e0 medida que os testes gen\u00f4micos forem mais usados para defici\u00eancia intelectual n\u00e3o diagnosticada. <\/p>\n

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Homens com condi\u00e7\u00f5es relacionadas ao CLCN4<\/h2>\n

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At\u00e9 agora, essa condi\u00e7\u00e3o sempre foi totalmente penetrante nos homens afetados. Mas, a gravidade dos sintomas pode variar bastante dentro de uma fam\u00edlia. A presen\u00e7a de uma doen\u00e7a convulsiva dif\u00edcil de tratar geralmente est\u00e1 associada a um fen\u00f3tipo mais grave.
As principais caracter\u00edsticas cl\u00ednicas dos homens e mulheres publicados est\u00e3o resumidas abaixo:
1. Defici\u00eancia intelectual (DI):<\/strong> presente em 100% dos homens afetados. A gravidade da defici\u00eancia intelectual varia de lim\u00edtrofe (1\/30: 3%) a leve (7\/30: 23%), moderada (9\/30: 30%) e grave\/profunda (13\/30: 43%). A linguagem expressiva e receptiva \u00e9 geralmente uma \u00e1rea de preocupa\u00e7\u00e3o especial. <\/p>\n

2. O dist\u00farbio convulsivo foi<\/strong> diagnosticado em 53% dos homens afetados. As convuls\u00f5es foram bem controladas em 44% dos que tinham convuls\u00f5es e intrat\u00e1veis \u00e0 politerapia em 55% dos que tinham convuls\u00f5es. A semiologia das convuls\u00f5es pode variar de convuls\u00f5es pouco frequentes, bem controladas com monoterapia, a epilepsia grave intrat\u00e1vel de in\u00edcio infantil, mesmo dentro de uma fam\u00edlia. Os tipos de convuls\u00f5es relatados incluem espasmos infantis, aus\u00eancias, miocl\u00f4nicas, t\u00f4nicas, parciais complexas e t\u00f4nico-cl\u00f4nicas generalizadas. Os achados de EEG relatados inclu\u00edram picos focais, picos multifocais e desacelera\u00e7\u00e3o generalizada do fundo. <\/p>\n

3. Problemas comportamentais\/dist\u00farbios de sa\u00fade mental<\/strong> (19\/30 (63%). Alguns homens foram descritos como tendo uma personalidade amig\u00e1vel, sem comportamentos desafiadores significativos ou problemas de sa\u00fade mental, mas 63% foram descritos como tendo problemas comportamentais ou de sa\u00fade mental significativos, incluindo comportamento hetero e autoagressivo, comportamento autista ou obsessivo-compulsivo repetitivo e hiperatividade. Sintomas depressivos ou de ansiedade foram relatados em 24% dos homens, incluindo um diagn\u00f3stico de transtorno bipolar. <\/p>\n

4. Sintomas neurol\u00f3gicos adicionais Inf\u00e2ncia:<\/strong> hipotonia foi relatada em 9 homens de 7 fam\u00edlias. Outros sinais neurol\u00f3gicos relatados na inf\u00e2ncia inclu\u00edram estrabismo (3 homens), defici\u00eancia visual cortical (2 homens), anormalidade na marcha (1 homem), movimentos coreiformes nos membros superiores (1 homem) e espasticidade progressiva nos membros superiores\/generalizada na inf\u00e2ncia (2 homens). Ataxia progressiva e\/ou espasticidade dos membros inferiores foram descritas ap\u00f3s a terceira d\u00e9cada em 4 homens de 2 fam\u00edlias. Dados longitudinais adicionais ser\u00e3o necess\u00e1rios para avaliar a frequ\u00eancia dos sintomas neurol\u00f3gicos progressivos em homens afetados. <\/p>\n

5. Anomalias na neuroimagem\/neuropatologia<\/strong> foram observadas em 8 homens testados de 6 fam\u00edlias. Mas, muitos homens n\u00e3o fizeram neuroimagem: a resson\u00e2ncia magn\u00e9tica do c\u00e9rebro estava normal em mais 4 homens. Anomalias na subst\u00e2ncia branca e atrofia cortical eram caracter\u00edsticas: leucomal\u00e1cia periventricular e\/ou dilata\u00e7\u00e3o ventricular foram observadas na inf\u00e2ncia, com caracter\u00edsticas adicionais de mieliniza\u00e7\u00e3o tardia e hipoplasia do corpo caloso na primeira inf\u00e2ncia e atrofia cortical na meia-idade e na velhice. <\/p>\n

6. Par\u00e2metros de crescimento e dismorfismo<\/strong> As caracter\u00edsticas comuns em homens mais velhos incluem um rosto comprido com nariz reto e queixo pontudo, que fica mais \u201cquadrado\u201d com a idade, e uma parte m\u00e9dia do rosto relativamente plana. As caracter\u00edsticas faciais n\u00e3o s\u00e3o t\u00e3o marcantes em homens mais jovens. Os par\u00e2metros de crescimento geralmente est\u00e3o dentro da faixa normal, mas muitos homens mais velhos t\u00eam um corpo magro e j\u00e1 foram observados casos de microcefalia e macrocefalia. <\/p>\n

7. Caracter\u00edsticas adicionais<\/strong> N\u00e3o foram relatados padr\u00f5es consistentes de sintomas extra-neurocognitivos, e muitas caracter\u00edsticas s\u00e3o comumente observadas em crian\u00e7as com DI de outras causas: incluindo refluxo gastroesof\u00e1gico e dificuldades alimentares precoces. Escoliose, criptorquidia e h\u00e9rnia inguinal foram ocasionalmente relatadas. <\/p>\n

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Mulheres heterozigotas com variantes familiares (18 indiv\u00edduos publicados)<\/h2>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”4.16″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_blurb content_max_width=”800px” _builder_version=”4.16″ header_font=”|700|||||||” header_font_size=”16px” header_line_height=”2em” body_line_height=”2em” global_colors_info=”{}”]<\/p>\n

O fen\u00f3tipo em mulheres com variantes familiares do CLCN4 tem sido relatado como extremamente vari\u00e1vel, variando de aparentemente completamente n\u00e3o afetadas a gravemente afetadas, mesmo dentro de uma mesma fam\u00edlia. Duas portadoras obrigat\u00f3rias de uma fam\u00edlia apresentaram dificuldades sutis de aprendizagem\/comportamentais. Uma mulher heterozig\u00f3tica de outra fam\u00edlia apresentava DI grave, dist\u00farbio convulsivo intrat\u00e1vel, atrofia cerebral e espasticidade e ataxia progressivas. Nenhum diagn\u00f3stico alternativo foi encontrado para essa mulher gravemente afetada. <\/p>\n

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Mulheres heterozigotas com variantes de novo (5 indiv\u00edduos publicados)<\/h2>\n

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O fen\u00f3tipo nas 5 mulheres heterozigotas relatadas com variantes de novo foi considerado mais grave e consistente com o fen\u00f3tipo em homens hemizigotos.<\/p>\n

1. Defici\u00eancia intelectual<\/strong>
Uma mulher afetada tinha defici\u00eancia intelectual lim\u00edtrofe, duas tinham defici\u00eancia intelectual moderada e duas tinham defici\u00eancia intelectual grave-profunda; mais uma vez, o desenvolvimento da linguagem, especialmente a linguagem expressiva, foi apontado como uma \u00e1rea de preocupa\u00e7\u00e3o especial.<\/p>\n

2. Transtorno convulsivo<\/strong>
Duas meninas com variantes de novo t\u00eam transtornos convulsivos de gravidade vari\u00e1vel.<\/p>\n

3. Condi\u00e7\u00f5es comportamentais\/de sa\u00fade mental<\/strong>
Duas meninas t\u00eam comportamentos autolesivos, uma foi avaliada como emocionalmente reativa; as outras duas meninas n\u00e3o tinham problemas comportamentais significativos.<\/p>\n

4. Sintomas neurol\u00f3gicos<\/strong>
Tr\u00eas meninas apresentaram hipotonia infantil e uma desenvolveu t\u00f4nus perif\u00e9rico levemente aumentado com reflexos patelares r\u00e1pidos.<\/p>\n

5. Altera\u00e7\u00f5es de neuroimagem<\/strong>
Quatro meninas apresentaram neuroimagem por resson\u00e2ncia magn\u00e9tica: relatada como normal em duas; houve neuropatologia sutil nas outras duas, com hipoplasia difusa do c\u00f3rtex e do corpo caloso em uma delas e terceiro ventr\u00edculo persistentemente aumentado e hiperintensidades subcorticais T2\/FLAIR na outra.<\/p>\n

6. Par\u00e2metros de crescimento\/dismorfismo<\/strong>
Duas das meninas com variantes de novo t\u00eam microcefalia. H\u00e1 evid\u00eancias emergentes de que uma variante recorrente espec\u00edfica em mulheres est\u00e1 associada a uma falha significativa no crescimento e baixa estatura. Caracter\u00edsticas dism\u00f3rficas sutis foram observadas em tr\u00eas meninas, incluindo fissuras palpebrais inclinadas para baixo com ponte nasal deprimida. <\/p>\n

7. Caracter\u00edsticas adicionais<\/strong>
Duas das cinco meninas tiveram dificuldades significativas de alimenta\u00e7\u00e3o na inf\u00e2ncia; uma teve h\u00e9rnia diafragm\u00e1tica cong\u00eanita (HDC) e displasia bilateral do quadril e uma teve escoliose. No entanto, a patogenicidade da variante CLCN4 relatada no indiv\u00edduo com HDC \u00e9 incerta, e n\u00e3o est\u00e1 definido que a variante CLCN4 seja a causa da HDC. <\/p>\n

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Entre em contacto. Envolver-se.<\/h2>\n

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Caracter\u00edsticas cl\u00ednicasO fen\u00f3tipo cl\u00ednico da condi\u00e7\u00e3o relacionada ao CLCN4 pode incluir defici\u00eancia intelectual ou dificuldades espec\u00edficas de aprendizagem, caracter\u00edsticas autistas, maior chance de depress\u00e3o e ansiedade, hipotonia infantil, epilepsia, dist\u00farbios motores, incluindo dist\u00farbios da marcha, altera\u00e7\u00f5es na subst\u00e2ncia branca em imagens cerebrais, dificuldades alimentares, baixa estatura\/falha no crescimento e anormalidades funcionais do intestino. At\u00e9 agora, […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-7400","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/pages\/7400","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/comments?post=7400"}],"version-history":[{"count":3,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/pages\/7400\/revisions"}],"predecessor-version":[{"id":7535,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/pages\/7400\/revisions\/7535"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/media?parent=7400"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}