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Letter to the Editor
Kabuki syndrome. A clinical approach
Síndrome de Kabuki. Estudio de un caso
Fidel Asensio Fierroa, Rubén Cabanillas Farpónb, Joaquín Bernardo-Cofiñoa,
Corresponding author
Joaquin.bercof@gmail.com

Corresponding author.
a Servicio de Medicina Interna, Centro Médico de Asturias. Oviedo, Spain
b Área de Medicina de Precisión, Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA), Oviedo, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The immune system arranges humoral and cellular defences in the form of a <span class="elsevierStyleItalic">continuum</span> that reacts to external and internal aggression&#46; Its dysfunctions - either as an autoimmune disease or as an immune deficiency - are not mutually exclusive and are sometimes combined&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> In some cases&#44; they share a genetic or epigenetic origin&#44;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> although this is rarely tangible in clinical reality given the difficulty of access to genetic studies&#46; The chain of processes&#44; together with an adequate identification of physical stigmata &#40;phenotyping&#41;&#44; are key to a well-founded call for precision medicine&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">We report the case of a 41-year-old woman with a recognised disability due to severe mental impairment&#44; diagnosed in March 2007 with idiopathic thrombotic purpura after admission to another centre for massive epistaxis and gynaecological bleeding&#46; She had received steroid treatment without response&#44; requiring 4 cycles of rituximab&#46; An initial diagnostic approach identified hypogammaglobulinemia secondary to a common variable immunodeficiency&#44; for which she received regular treatment with parenteral immunoglobulins&#46; Two years prior to her current evaluation she had presented with diarrhoea and abdominal pain&#44; showing a pattern of cholestasis and cytolysis&#44; and mild splenomegaly on outpatient assessments&#46; Her symptoms included gothic palate&#44; short stature and multiple melanotic lesions on the scalp&#44; back and thoracic region&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">An extensive battery of biochemical&#44; immunological&#44; microbiological and endoscopic studies proved inconclusive&#46; Gastric biopsies were performed on fundic polyps&#44; and on the duodenum papilla&#44; also without findings&#46; Screening was extended to include anti-gliadin antibodies &#40;very positive&#41;&#44; anti-transglutaminase antibodies &#40;negative&#41; and a genetic study for coeliac disease&#44; which showed triple positive results&#46; The gluten-free diet improved the diarrhoea&#44; while the liver function remained unchanged&#46; For this reason&#44; a pending biopsy had been recommended&#44; a matter on which a second opinion was requested&#46; Considering her age&#44; other aspects of her personal history had an impact on the clinician&#58; congenital dislocation of both hips &#40;multiple surgical interventions&#41; leading to a left hip replacement&#59; rickets diagnosed at 3&#8239;years of age&#44; and bilateral hearing loss after multiple otitis&#44; which required a right tympanoplasty&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">The concurrence of physical stigmata&#44; mental retardation&#44; autoimmune diseases and immunodeficiency<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> led to the possibility of a genetic&#47;syndromic condition&#44; and she was referred to a specific unit for further study&#46; A clinical exome identified a probable heterozygous germline pathogenic variant c&#46;12430C&#8239;&#62;&#8239;T &#40;p&#46;Q4144&#42;&#41; in the <span class="elsevierStyleItalic">KMT2D</span> gene&#46; This variant has been associated with Kabuki syndrome &#40;MIM&#35;147920&#41; with an autosomal-dominant mode of inheritance&#46; Truncating variants in this gene&#44; such as the one detected&#44; compromise methyltransferase function and interfere with its activity as an epigenetic regulator&#46; The consequence of its dysfunction is interference with gene expression during embryonic development and cell differentiation&#44; an aspect that is particularly relevant for the correct functioning of the immune system &#40;lymphocyte maturation and autoreactive clone deletion&#41;&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">The genetic basis of this syndrome is not limited only to <span class="elsevierStyleItalic">KTM2D</span> gene mutations&#44; but <span class="elsevierStyleItalic">KMT2A</span> or <span class="elsevierStyleItalic">KDM6A</span>&#44; involved in chromatin remodelling through modification of histone epigenetic marks&#44; may also be implicated&#46; The phenotypic impact and the clinical implications are overlapping&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">The problem case expresses multiple stigmata and meets the diagnostic criteria of an international panel<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a>&#58; she had developed early hypotonia and feeding difficulties&#44; showed the characteristic phenotypic changes in the outer canthus of the eyes&#44; gothic palate&#44; dermatoglyphic changes and growth retardation&#46; Mental retardation is common&#44; and&#44; incidentally&#44; epilepsy and cardiac malformations are not uncommon&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Autoimmune cytopenias&#44; as seems to be the norm in patients with immunodeficiencies&#44; are the most prevalent autoimmune-associated manifestations&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">Precision medicine clarifies the role of the rare entities it identifies&#46; Poor response to steroids and biliary involvement due to atresia are characteristic of Kabuki syndrome<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> or cystic degeneration&#44; whereas autoimmune liver disease has not been described&#46; The initial therapeutic approach would have been different&#44; and a liver biopsy could have been omitted&#46; It is therefore advantageous to break down the walls around this emerging diagnostic resource and look at a clinically very effective tool for dealing with and even anticipating decisions in difficult-to-manage clinical cases&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Ethical responsibilities</span><p id="par0040" class="elsevierStylePara elsevierViewall">The current manuscript does not involve the conduct of clinical research in humans or animals&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Funding</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors have not received funding&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflict of interests</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors have no conflict of interest&#46;</p></span></span>"
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