Letter to the Editor: Brief Case Reports
Barakat syndrome or HDR syndrome: Another association of kidney disease and deafness
Síndrome hipoparathyroidism, deafness and renal displasia o síndrome de Barakat otra asociación de sordera y nefropatía
Patrocinio Rodríguez Beníteza,
, María Teresa Jaldo Rodríguezb, Andrés Hernández Coronadoa, Esther Torres Aguileraa, Rosa Meleroa, Alberto Tejedora
Corresponding author
prodriguezb@senefro.org
Corresponding author at: Servicio de Nefrología, Hospital General Universitario Gregorio Marañón, C/ Dr. Esquerdo, 46, 28007 Madrid, Spain. Tel.: +34 915868319/915868674.
Corresponding author at: Servicio de Nefrología, Hospital General Universitario Gregorio Marañón, C/ Dr. Esquerdo, 46, 28007 Madrid, Spain. Tel.: +34 915868319/915868674.
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"aff0005" ] ] ] 3 => array:3 [ "nombre" => "Esther" "apellidos" => "Torres Aguilera" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:3 [ "nombre" => "Rosa" "apellidos" => "Melero" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 5 => array:3 [ "nombre" => "Alberto" "apellidos" => "Tejedor" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Nefrología, Hospital General Universitario Gregorio Marañón, Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Nefrología, Complejo Hospitalario de Jaén, Jaén, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author at</span>: Servicio de Nefrología, Hospital General Universitario Gregorio Marañón, C/ Dr. Esquerdo, 46, 28007 Madrid, Spain. Tel.: +34 915868319/915868674." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome hipoparathyroidism, deafness and renal displasia o síndrome de Barakat otra asociación de sordera y nefropatía" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">If a patient has kidney disease and deafness, we think on Alport syndrome, a widespread entity. However, this is not always the case. One of the recent issues of the journal Nefrología included an excellent review of kidney disease in the context of mitochondrial diseases and how nephrologists should suspect this diseases in a nephropathy (tubulopathy or glomerular injury, manifested by kidney failure and proteinuria) which is accompanied by hearing loss or sensorineural deafness.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> In this letter, we present a case of Barakat syndrome or hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome, another disease that should be included in the differential diagnosis of kidney disease and hereditary deafness.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2,3</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">A 32-year-old patient was admitted to the obstetrics department owing to oedema. She was 36 weeks pregnant and the laboratory tests revealed a plasma creatinine at 1.4<span class="elsevierStyleHsp" style=""></span>mg/dl and 6 grams of proteinuria in a 24-h urine collection. Medical history included familial hypoparathyroidism in chronic treatment with vitamin D and calcium carbonate, bilateral sensorineural deafness and left kidney agenesis. With this history, in 2007, she was diagnosed with HDR syndrome. A genetic study demonstrated the presence of the c.431 mutation in the GATA3 gene (gene for the transcription factor GATA3, located in the short arm of chromosome 10). Both the patient and her mother were heterozygous for this mutation. The rest of the family (father, sister and maternal aunt) did not have any clinical manifestations of the syndrome; nevertheless, a molecular genetic study ruled out the presence of this mutation. Prior to pregnancy, the patient had been examined in the urology department as she was a single-kidney patient. She had undergone laboratory testing that showed mild kidney failure with a serum Cr of 1.3<span class="elsevierStyleHsp" style=""></span>mg/dl and proteinuria at 2.8<span class="elsevierStyleHsp" style=""></span>g/day.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Since she did not have HTN, the presence of pre-eclampsia was ruled out, and she was diagnosed with worsening of renal function in a patient with chronic kidney disease (CKD) in pregnancy.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Given the severe and persistent proteinuria with the progressive decline in kidney function, it was decided to perform a Caesarean section, which proceeded without complications. After birth, she was started on antiproteinuric treatment with enalapril (10<span class="elsevierStyleHsp" style=""></span>mg/day). Currently (2 years after the birth), the patient has stage-3 CKD, with plasma creatinine at 1.7<span class="elsevierStyleHsp" style=""></span>mg/dl, glomerular filtration rate estimated by the MDRD-4 equation at 40<span class="elsevierStyleHsp" style=""></span>ml/min and albuminuria at 74<span class="elsevierStyleHsp" style=""></span>mg/day.</p><p id="par0025" class="elsevierStylePara elsevierViewall">HDR syndrome or Barakat syndrome is a rare autosomal dominant hereditary disease determined by a mutation in the GATA3 gene, a gene located in the short arm of chromosome 10.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> This gene is a transcription factor involved in the embryonic development of the parathyroid glands, kidneys, inner ears, thymus and central nervous system. This syndrome is characterised by the classic triad of familial primary hypoparathyroidism, with the possible occurrence of seizures, as a manifestation of hypocalcaemia, renal dysplasia and various degrees of sensorineural deafness. Most cases are bilateral.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">From a nephrology point of view, it may manifest with hypoplasia, renal dysplasia or agenesis, pyelocalyceal deformity, renal cysts, vesicoureteral reflux, renal tubular acidosis, chronic kidney failure (sometimes requiring renal replacement therapy), haematuria and various degrees of proteinuria. Nephrotic syndrome, which is typically resistant to steroids, may occur. The most common finding on kidney biopsy is focal segmental glomerulosclerosis.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">Treatment is symptomatic and aimed at managing or treating the clinical abnormalities associated with hypoparathyroidism, deafness and kidney disease, essentially, management of proteinuria.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Barakat syndrome is an uncommon cause of proteinuric nephropathy that should be suspected in cases associated with hypoparathyroidism and hereditary sensorineural deafness. Early diagnosis and treatment with renin–angiotensin system blockers may help slow the progression of kidney failure and improve prognosis, which essentially depends on the severity of kidney failure.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of interest</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflicts of interest" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Rodríguez Benítez P, Jaldo Rodríguez MT, Hernández Coronado A, Torres Aguilera E, Melero R, Tejedor A. Síndrome hipoparathyroidism, deafness and renal displasia o síndrome de Barakat otra asociación de sordera y nefropatía. Nefrologia. 2016;36:188–189.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "¿Cuándo debe sospechar un nefrólogo una enfermedad mitocondrial?" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "T. Cavero" 1 => "C. Rabasco" 2 => "A. Molero" 3 => "A. Blázquez" 4 => "E. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 8 | 6 | 14 |
| 2024 October | 123 | 53 | 176 |
| 2024 September | 82 | 38 | 120 |
| 2024 August | 131 | 72 | 203 |
| 2024 July | 100 | 50 | 150 |
| 2024 June | 122 | 42 | 164 |
| 2024 May | 115 | 38 | 153 |
| 2024 April | 108 | 44 | 152 |
| 2024 March | 85 | 28 | 113 |
| 2024 February | 65 | 47 | 112 |
| 2024 January | 52 | 22 | 74 |
| 2023 December | 45 | 18 | 63 |
| 2023 November | 71 | 25 | 96 |
| 2023 October | 72 | 34 | 106 |
| 2023 September | 55 | 26 | 81 |
| 2023 August | 69 | 26 | 95 |
| 2023 July | 76 | 28 | 104 |
| 2023 June | 132 | 21 | 153 |
| 2023 May | 123 | 40 | 163 |
| 2023 April | 81 | 20 | 101 |
| 2023 March | 108 | 34 | 142 |
| 2023 February | 69 | 30 | 99 |
| 2023 January | 67 | 28 | 95 |
| 2022 December | 101 | 32 | 133 |
| 2022 November | 89 | 33 | 122 |
| 2022 October | 86 | 34 | 120 |
| 2022 September | 87 | 33 | 120 |
| 2022 August | 120 | 54 | 174 |
| 2022 July | 83 | 47 | 130 |
| 2022 June | 107 | 35 | 142 |
| 2022 May | 79 | 42 | 121 |
| 2022 April | 125 | 54 | 179 |
| 2022 March | 98 | 57 | 155 |
| 2022 February | 86 | 43 | 129 |
| 2022 January | 101 | 33 | 134 |
| 2021 December | 87 | 49 | 136 |
| 2021 November | 88 | 37 | 125 |
| 2021 October | 147 | 37 | 184 |
| 2021 September | 64 | 40 | 104 |
| 2021 August | 80 | 40 | 120 |
| 2021 July | 94 | 38 | 132 |
| 2021 June | 70 | 27 | 97 |
| 2021 May | 92 | 54 | 146 |
| 2021 April | 134 | 50 | 184 |
| 2021 March | 118 | 31 | 149 |
| 2021 February | 77 | 34 | 111 |
| 2021 January | 57 | 19 | 76 |
| 2020 December | 65 | 19 | 84 |
| 2020 November | 61 | 35 | 96 |
| 2020 October | 44 | 11 | 55 |
| 2020 September | 59 | 19 | 78 |
| 2020 August | 49 | 18 | 67 |
| 2020 July | 55 | 26 | 81 |
| 2020 June | 59 | 28 | 87 |
| 2020 May | 76 | 24 | 100 |
| 2020 April | 56 | 17 | 73 |
| 2020 March | 62 | 18 | 80 |
| 2020 February | 69 | 21 | 90 |
| 2020 January | 70 | 25 | 95 |
| 2019 December | 67 | 24 | 91 |
| 2019 November | 63 | 29 | 92 |
| 2019 October | 61 | 15 | 76 |
| 2019 September | 50 | 22 | 72 |
| 2019 August | 40 | 12 | 52 |
| 2019 July | 51 | 33 | 84 |
| 2019 June | 64 | 18 | 82 |
| 2019 May | 50 | 25 | 75 |
| 2019 April | 106 | 35 | 141 |
| 2019 March | 90 | 25 | 115 |
| 2019 February | 54 | 19 | 73 |
| 2019 January | 66 | 29 | 95 |
| 2018 December | 145 | 41 | 186 |
| 2018 November | 227 | 14 | 241 |
| 2018 October | 198 | 15 | 213 |
| 2018 September | 126 | 9 | 135 |
| 2018 August | 64 | 18 | 82 |
| 2018 July | 69 | 15 | 84 |
| 2018 June | 72 | 18 | 90 |
| 2018 May | 80 | 14 | 94 |
| 2018 April | 132 | 5 | 137 |
| 2018 March | 91 | 14 | 105 |
| 2018 February | 69 | 7 | 76 |
| 2018 January | 97 | 9 | 106 |
| 2017 December | 81 | 10 | 91 |
| 2017 November | 74 | 13 | 87 |
| 2017 October | 56 | 9 | 65 |
| 2017 September | 52 | 7 | 59 |
| 2017 August | 56 | 9 | 65 |
| 2017 July | 47 | 6 | 53 |
| 2017 June | 59 | 20 | 79 |
| 2017 May | 66 | 11 | 77 |
| 2017 April | 54 | 11 | 65 |
| 2017 March | 23 | 15 | 38 |
| 2017 February | 40 | 4 | 44 |
| 2017 January | 28 | 6 | 34 |
| 2016 December | 52 | 8 | 60 |
| 2016 November | 64 | 21 | 85 |
| 2016 October | 86 | 11 | 97 |
| 2016 September | 107 | 5 | 112 |
| 2016 August | 161 | 2 | 163 |
| 2016 July | 163 | 5 | 168 |
| 2016 June | 137 | 0 | 137 |
| 2016 May | 148 | 0 | 148 |
| 2016 April | 98 | 0 | 98 |
| 2016 March | 33 | 0 | 33 |
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