Letter to the Editor
Gitelman syndrome and type 1 diabetes mellitus: An uncommon association
Síndrome de Gitelman y diabetes mellitus tipo 1: una asociación infrecuente
Silvia Patricia Alonso
, Marta Domínguez-López
Corresponding author
Servicio de Endocrinología y Nutrición, Hospital Regional Universitario de Málaga, Málaga, Spain
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The association of this entity with type 1 diabetes mellitus is uncommon, but when it occurs, the state of alkalosis produced by this tubulopathy must be taken into account as it can mask the diagnosis of a serious type 1 diabetes mellitus complication, such as diabetic ketoacidosis (in addition to making insulin treatment difficult because these patients have low potassium levels). The following is a case report on these facts.</p><p id="par0010" class="elsevierStylePara elsevierViewall">We report the case of a 43-year-old woman who had been diagnosed in 2014 with gestational diabetes in the third trimester of pregnancy, for which she was treated with Insulatard insulin, 11 units at bedtime, with good glycaemic control (weight 45 kg, height 1.57 m and BMI 18.26 kg/m<span class="elsevierStyleSup">2</span>).</p><p id="par0015" class="elsevierStylePara elsevierViewall">She went to the emergency department in 2018 for nausea, vomiting, abdominal pain, dehydration and a month-long history of polyuria, polydipsia and polyphagia with weight loss. The laboratory profile revealed the following: plasma glucose 272 mg/dL with positive urine ketone bodies and a capillary ketonemia on dipstick of 4.2 mmol/L. In addition, she had pH levels of 7.45, bicarbonate of 27.4 mEq/L, increased gap anion (21), serum sodium 135 mEq/L, potassium 2.4 mEq/L, and chlorine 89 mEq/L. Clinical assessment was hyperglycaemia with elevated ketonemia, but without metabolic acidosis. Treatment consisted of intravascular volume replacement, correction of serum electrolytes, hyperglycaemia and ketonemia. Both ketonemia and hyperglycaemia resolved after 12 h of intravenous insulin infusion, however, hypokalaemia remained after discontinuation of insulin (serum potassium 3.1 mEq/L), despite having received large amounts of intravenous potassium chloride (120 mEq/day). She was discharged 24 h after admission and prescribed Glargine insulin, 12 units/day.</p><p id="par0020" class="elsevierStylePara elsevierViewall">After this, follow-up continued in the outpatient endocrinology department, where a complete blood test was requested for the study of diabetes, which showed a glycated haemoglobin of 12.5%, a C-peptide of 0.55 ng/mL and positive anti-GAD65 antibodies (10.36 U/mL), and she was diagnosed with type 1 diabetes mellitus. In addition, blood tests showed hypokalaemia (3.2 mEq/L), hypomagnesaemia (1 mg/dL), metabolic alkalosis and hypocalciuria (91.8 mg/24 h).</p><p id="par0025" class="elsevierStylePara elsevierViewall">A diagnosis of Gitelman’s syndrome was suspected, so genetic testing was requested, which revealed that the patient had a homozygous mutation in the SLC12A3 gene, and the diagnosis was genetically confirmed.</p><p id="par0030" class="elsevierStylePara elsevierViewall">She is currently on treatment with basal insulin (10 units per day) and rapid insulin boluses with meals, as well as oral magnesium and potassium supplements, with good clinical course.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Gitelman syndrome is an autosomal recessive renal disorder characterised by hypokalaemia, hypomagnesaemia, metabolic alkalosis and hypocalciuria.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> This syndrome, in the vast majority of cases, is caused by mutations in the SLC12A3 gene (most often <span class="elsevierStyleItalic">de novo</span> mutations) encoding the thiazide-sensitive NaCl cotransporter (NCCT),<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> which is expressed in the apical membrane of distal convoluted tubule cells.</p><p id="par0040" class="elsevierStylePara elsevierViewall">The association of Gitelman's syndrome and type 1 diabetes mellitus is rare,<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> but caution must be exercised, as the existence of a tubulopathy that produces metabolic alkalosis, such as this syndrome, can hide the presence of a serious complication of type 1 diabetes mellitus such as diabetic ketoacidosis<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> which, together with the characteristic hypokalaemia (which is aggravated by the administration of insulin), makes treatment a real challenge.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0045" class="elsevierStylePara elsevierViewall">There are no sources of funding.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflict of interest</span><p id="par0050" class="elsevierStylePara elsevierViewall">There are no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflict of interest" ] 2 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:4 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The challenges of diagnosis and management of Gitelman syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "S. Urwin" 1 => "J. Willows" 2 => "J.A. Sayer" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Clin Endocrinol (Oxf)" "fecha" => "2020" "volumen" => "92" "paginaInicial" => "3" "paginaFinal" => "10" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Gitelman Syndrome: a rare case of hypokalaemia and a novel mutation" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "C. Mato" 1 => "F. Correia" 2 => "I. Nuñez da Silva" 3 => "S. Carola" 4 => "A. Órfão" 5 => "M. Ferreira" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:3 [ "tituloSerie" => "Eur J Case Reports Intern Med" "fecha" => "2021" "volumen" => "8" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Diabetic ketoacidosis complicated with previously unknown Gitelman syndrome in a Tunisian child" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Biagioni" 1 => "M. Marigliano" 2 => "A. Iannilli" 3 => "A. Cester" 4 => "S. Gatti" 5 => "I. D’Alba" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.2337/dc11-0127" "Revista" => array:6 [ "tituloSerie" => "Diabetes Care" "fecha" => "2011" "volumen" => "34" "paginaInicial" => "e107" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/21617100" "web" => "Medline" ] ] "itemHostRev" => array:3 [ "pii" => "S2213260021002617" "estado" => "S300" "issn" => "22132600" ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pitfalls in the laboratory diagnosis of diabetic ketoacidosis in Gitelman’s syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "F. Zangeneh" 1 => "M. Chiang" 2 => "F. Zangeneh" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.2337/diacare.26.3.955" "Revista" => array:5 [ "tituloSerie" => "Diabetes Care" "fecha" => "2003" "volumen" => "26" "paginaInicial" => "955" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12610073" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000016200000001/v2_202401260813/S2387020623005168/v2_202401260813/en/main.assets" "Apartado" => array:4 [ "identificador" => "43309" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the Editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000016200000001/v2_202401260813/S2387020623005168/v2_202401260813/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623005168?idApp=UINPBA00004N" ]
