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Diabetes insípida central familiar
Familial central diabetes insipidus
M. Pilar Bahíllo-Curiesesa,
Autor para correspondencia
pilarbahilloc@yahoo.es

Autor para correspondencia.
, Marta Palomares-Cardadora, Alejandro García-Castañob,c,d
a Servicio de Pediatría, Endocrinología Pediátrica, Hospital Clínico Universitario, Valladolid, España
b Biocruces Bizkaia Research Institute, Barakaldo, Bizkaia, España
c Enfermedades raras Centro de Investigación Biomédica en Red (CIBERER), España
d Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), España
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Diuresis de 3&#44;5<span class="elsevierStyleHsp" style=""></span>ml&#47;kg&#47;h&#44; sin nicturia&#46; Sin antecedentes personales de inter&#233;s salvo enuresis nocturna primaria&#44; sobrepeso y trastorno de d&#233;ficit de atenci&#243;n e hiperactividad &#40;TDAH&#41; en tratamiento con metilfenidato&#46; Padre con poliuria-polidipsia no estudiada por deseo propio&#44; refer&#237;a ingesta de 8<span class="elsevierStyleHsp" style=""></span>l de agua diarios&#46; Abuelo paterno diagnosticado en otro centro de DIC &#40;resonancia magn&#233;tica &#91;RM&#93; craneal normal&#41; y diabetes tipo 2 en tratamiento con insulina&#46; Exploraci&#243;n f&#237;sica normal&#44; con peso&#58; 31&#44;4<span class="elsevierStyleHsp" style=""></span>kg&#59; talla&#58; 122&#44;2<span class="elsevierStyleHsp" style=""></span>cm &#40;&#43;0&#44;73 DE&#41;&#59; IMC&#58; 21&#44;03<span class="elsevierStyleHsp" style=""></span>kg&#47;m<span class="elsevierStyleSup">2</span> &#40;&#43;1&#44;83 DE&#41;&#59; Tanner I&#46; Osmolaridad plasm&#225;tica 270&#44;7<span class="elsevierStyleHsp" style=""></span>mOsm&#47;kg&#59; sodio plasm&#225;tico 141&#44;2<span class="elsevierStyleHsp" style=""></span>mEq&#47;l&#44; y resto de bioqu&#237;mica sangu&#237;nea y hemograma normales&#46; Sistem&#225;tico de orina&#58; pH 6&#44; densidad 1&#46;007&#44; resto negativo&#46; Orina de 24<span class="elsevierStyleHsp" style=""></span>h&#58; Diuresis 2&#46;600<span class="elsevierStyleHsp" style=""></span>ml &#40;1&#46;517<span class="elsevierStyleHsp" style=""></span>ml&#47;1&#44;73<span class="elsevierStyleHsp" style=""></span>m<span class="elsevierStyleSup">2</span>&#47;d&#237;a&#41;&#59; Osm 209<span class="elsevierStyleHsp" style=""></span>mOsm&#47;kg&#59; EFNa&#58; 0&#44;6&#37;&#59; EFK&#58; 6&#37;&#59; EFCl&#58; 0&#44;6&#37;&#59; RTP&#58; 89&#44;42&#37;&#59; calciuria&#58; 2&#44;1<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;d&#237;a&#59; cociente Ca&#47;creatinina&#58; 0&#44;13&#44; y cociente prote&#237;nas&#47;creatinina negativo&#46; Ante la sospecha de DI se realiz&#243; test de restricci&#243;n h&#237;drica en 2 ocasiones con resultado normal&#46; En el seguimiento de los 8 a&#241;os 9 meses se objetiv&#243; empeoramiento de la cl&#237;nica&#44; por lo que se repiti&#243; el test de restricci&#243;n h&#237;drica con resultado no concluyente &#40;DIC parcial vs&#46; polidipsia de larga evoluci&#243;n&#41; &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">tabla 1</a>&#41;&#46; Se realiz&#243; RM craneal mostrando hip&#243;fisis de tama&#241;o&#44; morfolog&#237;a y comportamiento tras administraci&#243;n de contraste normal&#44; con peque&#241;o quiste en la gl&#225;ndula pineal &#40;8<span class="elsevierStyleHsp" style=""></span>mm&#41; no compresivo como hallazgo casual&#46; Estudio oftalmol&#243;gico normal&#46; Debido a los antecedentes familiares de poliuria-polidipsia y a la persistencia de la cl&#237;nica en la paciente se solicit&#243; estudio gen&#233;tico en ambos progenitores y en el caso &#237;ndice observ&#225;ndose una mutaci&#243;n en el ex&#243;n 1&#44; consistente en c&#46;55G&#62;A&#59;p&#46;Ala19Thr &#40;padre e hija&#41; en el gen AVP-NPII&#46; Tras confirmarse el diagn&#243;stico de DIC familiar se inici&#243; tratamiento con desmopresina a 1&#44;4<span class="elsevierStyleHsp" style=""></span>&#956;g&#47;kg&#47;d&#237;a&#44; con mejor&#237;a inmediata de la sintomatolog&#237;a con disminuci&#243;n de la poliuria y polidipsia durante el d&#237;a y durante la noche con ingesta de agua de 2&#46;100<span class="elsevierStyleHsp" style=""></span>ml y diuresis 1&#46;900<span class="elsevierStyleHsp" style=""></span>ml &#40;1&#44;7<span class="elsevierStyleHsp" style=""></span>ml&#47;kg&#47;d&#237;a&#41;&#46; A nivel anal&#237;tico&#44; tras 8 meses de tratamiento&#44; cabe destacar una osmolaridad plasm&#225;tica 272&#44;47<span class="elsevierStyleHsp" style=""></span>mOsm&#47;kg y sodio plasm&#225;tico 141&#44;14<span class="elsevierStyleHsp" style=""></span>mEq&#47;l&#46; Sistem&#225;tico de orina&#58; pH 5&#59; densidad 1&#46;020 y osmolaridad urinaria 819<span class="elsevierStyleHsp" style=""></span>mOsm&#47;kg &#40;tras dosis matutina de desmopresina&#41;&#46;</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Este caso pone de manifiesto la utilidad del estudio gen&#233;tico para el diagn&#243;stico en ni&#241;os con sospecha de DIC familiar&#46; No existe una clara relaci&#243;n genotipo-fenotipo&#44; por lo que existe gran variabilidad intrafamiliar en la edad de inicio de los s&#237;ntomas &#40;normalmente entre uno y 6 a&#241;os&#41;&#44; as&#237; como en la severidad de los mismos&#44; por lo que parece que puedan estar implicados otros factores gen&#233;ticos y&#47;o ambientales<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">1&#44;2</span></a>&#46; Aunque el test de restricci&#243;n h&#237;drica es &#250;til para el despistaje de esta enfermedad&#44; en pacientes con alta sospecha cl&#237;nica&#44; su normalidad no permite descartarla&#44; debido a su inicio gradual y progresivo con una DI parcial inicialmente<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">1&#44;3</span></a>&#46; De la misma manera&#44; algunos estudios se&#241;alan c&#243;mo la ausencia de hiperintensidad que se aprecia en la RM craneal en los casos de DIC familiar se halla estrechamente relacionada con la falta de actividad funcional a nivel del l&#243;bulo posterior de la hip&#243;fisis&#44; apoyando el diagn&#243;stico<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a>&#46; En nuestro caso y ante la negativa del padre a realizarse el test de restricci&#243;n h&#237;drica&#44; se realiz&#243; directamente el estudio gen&#233;tico&#46; La mutaci&#243;n encontrada tanto en el caso &#237;ndice como en su progenitor &#40;mutaci&#243;n en el ex&#243;n 1&#44; consistente en c&#46;55G<span class="elsevierStyleHsp" style=""></span>&#62;A&#59;p&#46;Ala19Thr en el gen AVP-NPII&#41;&#44; ya hab&#237;a sido descrita como patog&#233;nica en la literatura&#44; aunque la bibliograf&#237;a es escasa al respecto<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a>&#46; La certeza diagn&#243;stica que aporta el estudio gen&#233;tico es fundamental para la instauraci&#243;n de un tratamiento precoz&#44; as&#237; como para ofrecer consejo gen&#233;tico a las familias<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">1&#44;2</span></a>&#46;</p></span>"
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          "tablatextoimagen" => array:1 [
            0 => array:2 [
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                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td-with-role" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col">Test de restricci&#243;n h&#237;drica&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " colspan="4" align="center" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">1&#46;&#176;&#58; 6 a&#241;os</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " colspan="4" align="center" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">2&#46;&#176;&#58; 7 a&#241;os</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " colspan="4" align="center" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">3&#46;&#176;&#58; 8 a&#241;os 8 meses</th></tr><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Osmp mOsm&#47;kg&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Na<span class="elsevierStyleSup">&#43;</span> pl mEq&#47;l&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Osmu mOsm&#47;kg&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Du&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Osmp mOsm&#47;kg&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Na<span class="elsevierStyleSup">&#43;</span> pl mEq&#47;l&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Osmu mOsm&#47;kg&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Du&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Osmp mOsm&#47;kg&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Na<span class="elsevierStyleSup">&#43;</span> pl mEq&#47;l&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Osmu mOsm&#47;kg&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Du&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t">Basal&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">275&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t">142&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">410&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">1&#46;005&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">267&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">137&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">116&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">1&#46;005&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">275&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t">140&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">1&#46;005&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t">3<span class="elsevierStyleHsp" style=""></span>h&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">234&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">225&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">1&#46;006&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">5<span class="elsevierStyleHsp" style=""></span>h&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">614&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
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                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
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                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t">9<span class="elsevierStyleHsp" style=""></span>h&nbsp;\t\t\t\t\t\t\n
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Información del artículo
ISSN: 00257753
Idioma original: Español
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