Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described
Síndrome uña-rótula. Un caso con una mutación de novo en el gen LMX1B no descrita previamente
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Un caso con una mutación de novo en el gen LMX1B no descrita previamente" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig1" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "copyright" => "Elsevier España" "figura" => array:1 [ 0 => array:4 [ "imagen" => "12006_16025_48091_en_f112006.jpg" "Alto" => 805 "Ancho" => 1014 "Tamanyo" => 95609 ] ] "descripcion" => array:1 [ "en" => "Absence of patellas" ] ] ] "textoCompleto" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">Content</span></p><p class="elsevierStylePara">The nail-patella syndrome is an uncommon hereditary disease caused by mutations that result in a loss of function of the transcription factor LMX1B. Prevalence is estimated at 1/50,000 new-born babies. It is transmitted with an autosomal dominant inheritance pattern with complete penetrance. The pleiotropic gene LMX1B, a member of the “homeogene” family involved in development, participates in the normal configuration of the dorsal-ventral axis and the glomerular basement membrane during embryonic development.</p><p class="elsevierStylePara">The disease was first described by Little in 1897,<span class="elsevierStyleSup">1</span> although Fong wrote the classic description of the disease in 1946.<span class="elsevierStyleSup">2 </span>The link with kidney disease was established by Hawkins and Smith in 1950.<span class="elsevierStyleSup">3</span> The gene responsible was described by Dreyer et al. in 1998.<span class="elsevierStyleSup">4</span></p><p class="elsevierStylePara">The extent of severity of the clinical phenotype is extremely variable. Basically, it is an illness that affects the nails, skeletal system, kidneys and eyes. The clinical manifestations that define the disease are grouped in the clinical tetrad consisting of nail dysplasia (98%), hypoplasia and aplasia of the patella (74 %), functional limitation of elbows (70%) and the presence of iliac horns (70 %); the latter, which are pathognomonic, can be observed by ultrasound scan from the third trimester of pregnancy. Around 40% of patients show renal involvement consisting of haematuria and proteinuria. 5-10% develop nephrotic range proteinuria in childhood or adolescence and progress to terminal renal failure within varying periods of time. With the electron microscope, we can see the podocyte foot process effacement, glomerular basement membrane thickening with areas of rarefaction and dispersed collagen fibril deposits, which are more numerous in the mesangial matrix. The transcription factor <span class="elsevierStyleItalic">LMX1B </span>is expressed in the podocyte in postnatal life, which suggests that its role is to regulate various genes in this cell, such as NPHS2 and CD2AP.<span class="elsevierStyleSup">5</span></p><p class="elsevierStylePara">We had the opportunity to study a girl of 8 years and 3 months of age who was referred due to proteinuria detection. At birth, a low weight was observed, along with the presence of dysmorphic features, such as bowlegs, mild arthrogryposis in her elbows, macrocephaly and nail hypoplasia. She started to walk at 21 months due to hip dysplasia. She underwent several surgeries to correct skeletal defects. In the current clinical examination she displayed short stature, macrocephaly with a very prominent forehead, synophrys and very thick eyebrows, a broad nasal philtrum with a thin upper lip, down-slanting palpebral fissures, anteverted nostrils, hypertelorism, absence of both patellas (Figure 1) and finger nail hypoplasia with dystrophic nails (Figure 2). Oedemas were not observed. She is the second daughter of non-consanguineous parents with no history of renal disease in any of the family branches. Her father has mild abnormalities in his nails. Biochemistry work-up found nephrotic range proteinuria (7.3g/l protein/creatinine [Cr] ratio: 6.73mg/mg), hypoproteinaemia (5.3g/l), reduced levels of IgG (512mg/dl) and hypercholesterolaemia (312mg/dl). The glomerular filtration rate (GFR) was normal (134ml/min/1.73m<span class="elsevierStyleSup">2</span>). The <span class="elsevierStyleItalic">LMX1B</span> gene study showed mutation c.728G>C (p.Trp243Ser) in heterozygosis. This mutation has previously been described in literature. Since <span class="elsevierStyleItalic">LMX1B</span> gene mutations have only been associated with the nail-patella syndrome, we assume that it is responsible for the patient’s clinical profile. In the genetic study carried out on first degree relatives, the mutation was not observed, and as such, this must be a <span class="elsevierStyleItalic">de novo</span> mutation. The patient was treated with oral enalapril, in an attempt to reduce proteinuria, and with simvastatin. With this treatment, proteinuria decreased to 5.35g/l (protein/Cr ratio: 2.84mg/mg), GFR remained normal and the patient remained free of oedemas.</p><p class="elsevierStylePara">In this disease, more than 130 different mutations have been described, mainly consisting of changes in just one nucleotide. They are predominantly distributed between exons 2 and 6. A more common series of mutations has been described which together represent 30% of the total. 12% of mutations are <span class="elsevierStyleItalic">de novo.</span><span class="elsevierStyleSup">7</span> No phenotype-genotype correlation has been established, and as such, although prenatal diagnosis can be carried out, there is marked inter and intrafamilial variability.<span class="elsevierStyleSup">7</span> The confirmation of a mutation in the <span class="elsevierStyleItalic">LMX1B </span>gene avoids the need to perform a renal biopsy to confirm diagnosis. There is no specific treatment. There is no recurrence of lesions of the glomerular basement membrane after renal transplantation.</p><p class="elsevierStylePara"> </p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara"> </p><p class="elsevierStylePara">The authors declare that they have no conflicts of interest related to the contents of this article.</p><p class="elsevierStylePara"><a href="grande/12006_16025_48091_en_f112006.jpg" class="elsevierStyleCrossRefs"><img src="12006_16025_48091_en_f112006.jpg" alt="Absence of patellas"></img></a></p><p class="elsevierStylePara">Figure 1. Absence of patellas</p><p class="elsevierStylePara"><a href="grande/12006_16025_48092_en_f212006.jpg" class="elsevierStyleCrossRefs"><img src="12006_16025_48092_en_f212006.jpg" alt="Nail hypoplasia and dystrophic nails"></img></a></p><p class="elsevierStylePara">Figure 2. Nail hypoplasia and dystrophic nails</p>" "pdfFichero" => "P1-E557-S4294-A12006-EN.pdf" "tienePdf" => true "multimedia" => array:2 [ 0 => array:8 [ "identificador" => "fig1" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "copyright" => "Elsevier España" "figura" => array:1 [ 0 => array:4 [ "imagen" => "12006_16025_48091_en_f112006.jpg" "Alto" => 805 "Ancho" => 1014 "Tamanyo" => 95609 ] ] "descripcion" => array:1 [ "en" => "Absence of patellas" ] ] 1 => array:8 [ "identificador" => "fig2" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "copyright" => "Elsevier España" "figura" => array:1 [ 0 => array:4 [ "imagen" => "12006_16025_48092_en_f212006.jpg" "Alto" => 670 "Ancho" => 1016 "Tamanyo" => 154670 ] ] "descripcion" => array:1 [ "en" => "Nail hypoplasia and dystrophic nails" ] ] ] "bibliografia" => array:2 [ "titulo" => "Bibliography" "seccion" => array:1 [ 0 => array:1 [ "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Little EM. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 5 | 7 | 12 |
| 2024 October | 84 | 64 | 148 |
| 2024 September | 88 | 46 | 134 |
| 2024 August | 115 | 64 | 179 |
| 2024 July | 80 | 42 | 122 |
| 2024 June | 62 | 58 | 120 |
| 2024 May | 85 | 49 | 134 |
| 2024 April | 82 | 43 | 125 |
| 2024 March | 71 | 28 | 99 |
| 2024 February | 58 | 32 | 90 |
| 2024 January | 51 | 28 | 79 |
| 2023 December | 54 | 174 | 228 |
| 2023 November | 90 | 41 | 131 |
| 2023 October | 70 | 40 | 110 |
| 2023 September | 61 | 31 | 92 |
| 2023 August | 98 | 20 | 118 |
| 2023 July | 102 | 28 | 130 |
| 2023 June | 147 | 24 | 171 |
| 2023 May | 150 | 42 | 192 |
| 2023 April | 116 | 22 | 138 |
| 2023 March | 117 | 24 | 141 |
| 2023 February | 64 | 28 | 92 |
| 2023 January | 65 | 24 | 89 |
| 2022 December | 89 | 46 | 135 |
| 2022 November | 68 | 35 | 103 |
| 2022 October | 77 | 53 | 130 |
| 2022 September | 85 | 50 | 135 |
| 2022 August | 75 | 82 | 157 |
| 2022 July | 56 | 57 | 113 |
| 2022 June | 99 | 42 | 141 |
| 2022 May | 82 | 49 | 131 |
| 2022 April | 74 | 60 | 134 |
| 2022 March | 70 | 46 | 116 |
| 2022 February | 65 | 44 | 109 |
| 2022 January | 68 | 34 | 102 |
| 2021 December | 78 | 41 | 119 |
| 2021 November | 58 | 43 | 101 |
| 2021 October | 64 | 41 | 105 |
| 2021 September | 68 | 31 | 99 |
| 2021 August | 52 | 48 | 100 |
| 2021 July | 54 | 31 | 85 |
| 2021 June | 55 | 23 | 78 |
| 2021 May | 50 | 32 | 82 |
| 2021 April | 152 | 71 | 223 |
| 2021 March | 84 | 39 | 123 |
| 2021 February | 92 | 24 | 116 |
| 2021 January | 57 | 19 | 76 |
| 2020 December | 57 | 10 | 67 |
| 2020 November | 56 | 41 | 97 |
| 2020 October | 50 | 14 | 64 |
| 2020 September | 68 | 12 | 80 |
| 2020 August | 66 | 10 | 76 |
| 2020 July | 68 | 12 | 80 |
| 2020 June | 59 | 18 | 77 |
| 2020 May | 55 | 13 | 68 |
| 2020 April | 60 | 14 | 74 |
| 2020 March | 54 | 7 | 61 |
| 2020 February | 61 | 26 | 87 |
| 2020 January | 84 | 14 | 98 |
| 2019 December | 87 | 22 | 109 |
| 2019 November | 70 | 21 | 91 |
| 2019 October | 55 | 12 | 67 |
| 2019 September | 40 | 19 | 59 |
| 2019 August | 30 | 21 | 51 |
| 2019 July | 43 | 23 | 66 |
| 2019 June | 38 | 11 | 49 |
| 2019 May | 53 | 18 | 71 |
| 2019 April | 90 | 38 | 128 |
| 2019 March | 53 | 29 | 82 |
| 2019 February | 46 | 19 | 65 |
| 2019 January | 70 | 19 | 89 |
| 2018 December | 114 | 38 | 152 |
| 2018 November | 98 | 25 | 123 |
| 2018 October | 94 | 21 | 115 |
| 2018 September | 138 | 12 | 150 |
| 2018 August | 91 | 15 | 106 |
| 2018 July | 67 | 20 | 87 |
| 2018 June | 79 | 12 | 91 |
| 2018 May | 76 | 14 | 90 |
| 2018 April | 95 | 17 | 112 |
| 2018 March | 77 | 13 | 90 |
| 2018 February | 53 | 12 | 65 |
| 2018 January | 70 | 10 | 80 |
| 2017 December | 66 | 10 | 76 |
| 2017 November | 54 | 17 | 71 |
| 2017 October | 55 | 11 | 66 |
| 2017 September | 57 | 10 | 67 |
| 2017 August | 58 | 13 | 71 |
| 2017 July | 67 | 18 | 85 |
| 2017 June | 66 | 8 | 74 |
| 2017 May | 105 | 15 | 120 |
| 2017 April | 59 | 14 | 73 |
| 2017 March | 64 | 6 | 70 |
| 2017 February | 160 | 15 | 175 |
| 2017 January | 74 | 11 | 85 |
| 2016 December | 83 | 12 | 95 |
| 2016 November | 138 | 14 | 152 |
| 2016 October | 187 | 11 | 198 |
| 2016 September | 285 | 5 | 290 |
| 2016 August | 260 | 8 | 268 |
| 2016 July | 237 | 10 | 247 |
| 2016 June | 146 | 0 | 146 |
| 2016 May | 174 | 0 | 174 |
| 2016 April | 149 | 0 | 149 |
| 2016 March | 103 | 0 | 103 |
| 2016 February | 130 | 0 | 130 |
| 2016 January | 122 | 0 | 122 |
| 2015 December | 138 | 0 | 138 |
| 2015 November | 123 | 0 | 123 |
| 2015 October | 85 | 0 | 85 |
| 2015 September | 91 | 0 | 91 |
| 2015 August | 81 | 0 | 81 |
| 2015 July | 81 | 0 | 81 |
| 2015 June | 48 | 0 | 48 |
| 2015 May | 55 | 0 | 55 |
| 2015 April | 9 | 0 | 9 |
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