Scientific Letter
Horseshoe kidney: Chance or embryopathy due to maternal phenylketonuria
Riñón en herradura: casualidad o embriopatía por fenilcetonuria materna
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=> "aff0005" ] ] ] 1 => array:4 [ "nombre" => "Raquel" "apellidos" => "Plácido Paias" "email" => array:1 [ 0 => "raquelpaias@hotmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Unidad de Diagnóstico y Seguimiento de Enfermedades Metabólicas de Extremadura, Servicio de Gastroenterología Infantil, Hospital Materno Infantil de Badajoz, Badajoz, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Pediatría, Hospital de Mérida, Mérida, Badajoz, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Riñón en herradura: casualidad o embriopatía por fenilcetonuria materna" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 932 "Ancho" => 1341 "Tamanyo" => 101400 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Renal ultrasound image showing horseshoe kidney with isthmus in the midline of the retroperitoneal space.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The implantation of the neonatal screening programme in Spain since 1980 and the associated improvement in outcomes has resulted in an increase in the number of pregnant women that have phenylketonuria (PKU).<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">During pregnancy, the amount of maternal phenylalanine (Phe) that crosses the placenta increases, and can be neurotoxic and teratogenic for a developing foetus with an immature liver.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1–6</span></a> The abnormalities in the offspring of women with uncontrolled PKU during pregnancy were first reported by Dent in 1957 and Mabry et al. in 1963.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The term maternal phenylketonuria syndrome (MPKUS) refers to the teratogenic effects of intrauterine exposure to Phe on the developing foetus, both physical and cognitive.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,2</span></a> Teratogenicity is minimal to non-existent if maternal levels of Phe are maintained between 120 and 360<span class="elsevierStyleHsp" style=""></span>μmol/L (2–6<span class="elsevierStyleHsp" style=""></span>mg/dL) for the 3 months preceding conception and throughout pregnancy,<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1–6</span></a> although some authors have reported that serum levels of Phe of less than 120<span class="elsevierStyleHsp" style=""></span>μmol/L can also be associated with embryopathy.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4,6</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">We present the case of a patient aged 32 years with classic PKU and mild phenotype with optimal preconceptional metabolic control. The prenatal ultrasound scans were normal and the serum Phe remained under 240<span class="elsevierStyleHsp" style=""></span>μmol/L during pregnancy.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The patient gave birth at term to a newborn with normal phenotype, normal findings in the transfontanellar ultrasound and negative neonatal screening results. At 1 month post birth, an abdominal ultrasound scan detected a horseshoe kidney in the infant (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">Horseshoe kidney is the most frequent renal fusion anomaly and occurs in 0.4–1.6 per 10<span class="elsevierStyleHsp" style=""></span>000 live births. It consists of 2 renal masses oriented vertically on either side or to one side of the midline fused by an isthmus of parenchyma or fibrous tissue that traverses the medial plane. In more than 90% of cases, the kidneys are fused at the distant poles.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Maternal PKU syndrome may manifest with intellectual disability (92% of cases), microcephaly (73%), intrauterine growth restriction (40%), heart disease (12%) and oesophageal atresia and facial malformations.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1–6</span></a> Gokmen et a were the first to describe the presence of unilateral renal agenesis in an infant with maternal PKU syndrome.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> However, the effects of hyperphenylalaninemia on renal development is yet unknown. The facial dysmorphic features are similar to those found in foetal alcohol syndrome.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">As for the treatment of the pregnant mother with PKU, not all drugs and nutritional supplements available to individuals with PKU are appropriate for use in pregnancy. Thus, supplementation with large neutral amino acids during pregnancy is not recommended, as it does not consistently decrease the serum levels of Phe.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Sapropterin is a drug that can be used during pregnancy after considering its potential risks and benefits for the mother and the foetus. It is recommended that women that were taking sapropterin before conception continue to do so during pregnancy.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Maternal Phe requirements do not remain the same throughout pregnancy, as they are lower in the first and second trimester and increase in the third trimester, when the liver of the foetus is more mature. Therefore, the mother must be under strict nutritional control during pregnancy to avoid severe dietary restrictions resulting in insufficient energy and protein intakes.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,2,6</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Monitoring of vitamin and mineral intake is recommended.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,2</span></a> The foods used for medical treatment in patients with PKU may result in elevation of vitamin A levels, which is associated with congenital defects. There is also evidence linking a deficient intake of vitamin B<span class="elsevierStyleInf">12</span> with an increased risk of congenital heart defects.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4,5</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">In the postpartum period, maternal Phe requirements decrease, and strict metabolic and nutritional control continues to be necessary. Breastfeeding is not contraindicated in these mothers, as infants who are not affected by phenylalanine hydroxylase deficiency can easily metabolise the slightly elevated Phe levels in breast milk.</p><p id="par0065" class="elsevierStylePara elsevierViewall">We believe that the case we present here is relevant, as it is the first in a pregnant woman with PKU in our region where despite strict prenatal control the child had a renal anomaly. This may have been a chance occurrence, but it could also be a malformation resulting from maternal hyperphenylalaninemia that has not yet been described in the literature. We should also emphasise the importance of testing pregnant women for PKU in countries where neonatal screening is not universal in order to identify affected women whose children could benefit from dietary treatment of the mother during pregnancy, which can prevent maternal PKU syndrome.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Márquez Armenteros AM, Plácido Paias R. Riñón en herradura: casualidad o embriopatía por fenilcetonuria materna. An Pediatr (Barc). 2019;90:248–249.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 932 "Ancho" => 1341 "Tamanyo" => 101400 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Renal ultrasound image showing horseshoe kidney with isthmus in the midline of the retroperitoneal space.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Importancia del diagnóstico precoz de fenilcetonuria en la mujer y del control de los niveles de fenilalanina en la gestación" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "F. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 2 | 4 | 6 |
| 2024 October | 56 | 41 | 97 |
| 2024 September | 61 | 37 | 98 |
| 2024 August | 74 | 62 | 136 |
| 2024 July | 76 | 35 | 111 |
| 2024 June | 76 | 37 | 113 |
| 2024 May | 76 | 29 | 105 |
| 2024 April | 58 | 38 | 96 |
| 2024 March | 58 | 28 | 86 |
| 2024 February | 56 | 26 | 82 |
| 2024 January | 66 | 23 | 89 |
| 2023 December | 95 | 24 | 119 |
| 2023 November | 92 | 42 | 134 |
| 2023 October | 56 | 32 | 88 |
| 2023 September | 54 | 23 | 77 |
| 2023 August | 48 | 20 | 68 |
| 2023 July | 52 | 19 | 71 |
| 2023 June | 60 | 27 | 87 |
| 2023 May | 88 | 27 | 115 |
| 2023 April | 56 | 14 | 70 |
| 2023 March | 64 | 22 | 86 |
| 2023 February | 72 | 25 | 97 |
| 2023 January | 57 | 21 | 78 |
| 2022 December | 65 | 40 | 105 |
| 2022 November | 67 | 37 | 104 |
| 2022 October | 96 | 53 | 149 |
| 2022 September | 70 | 18 | 88 |
| 2022 August | 70 | 49 | 119 |
| 2022 July | 62 | 44 | 106 |
| 2022 June | 62 | 34 | 96 |
| 2022 May | 54 | 55 | 109 |
| 2022 April | 72 | 33 | 105 |
| 2022 March | 83 | 63 | 146 |
| 2022 February | 71 | 38 | 109 |
| 2022 January | 94 | 34 | 128 |
| 2021 December | 66 | 43 | 109 |
| 2021 November | 72 | 50 | 122 |
| 2021 October | 85 | 78 | 163 |
| 2021 September | 72 | 42 | 114 |
| 2021 August | 63 | 49 | 112 |
| 2021 July | 73 | 33 | 106 |
| 2021 June | 99 | 35 | 134 |
| 2021 May | 99 | 38 | 137 |
| 2021 April | 255 | 57 | 312 |
| 2021 March | 134 | 50 | 184 |
| 2021 February | 99 | 26 | 125 |
| 2021 January | 121 | 26 | 147 |
| 2020 December | 163 | 23 | 186 |
| 2020 November | 74 | 25 | 99 |
| 2020 October | 75 | 14 | 89 |
| 2020 September | 115 | 16 | 131 |
| 2020 August | 121 | 12 | 133 |
| 2020 July | 148 | 14 | 162 |
| 2020 June | 49 | 10 | 59 |
| 2020 May | 88 | 12 | 100 |
| 2020 April | 64 | 19 | 83 |
| 2020 March | 67 | 13 | 80 |
| 2020 February | 94 | 10 | 104 |
| 2020 January | 90 | 13 | 103 |
| 2019 December | 56 | 11 | 67 |
| 2019 November | 48 | 5 | 53 |
| 2019 October | 45 | 10 | 55 |
| 2019 September | 51 | 7 | 58 |
| 2019 August | 54 | 15 | 69 |
| 2019 July | 54 | 24 | 78 |
| 2019 June | 74 | 18 | 92 |
| 2019 May | 69 | 22 | 91 |
| 2019 April | 92 | 49 | 141 |
| 2019 March | 11 | 2 | 13 |
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