Foetal hyper-echogenic colon as an early sign of cystinuria
Hiperecogenicidad prenatal del colon como signo precoz de cistinuria
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"apellidos" => "GARCÍA NIETO" "email" => array:1 [ 0 => "vgarcianieto@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "affc" ] ] ] 6 => array:3 [ "Iniciales" => "J.M." "apellidos" => "TROYANO LUQUE" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "affd" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Pediatría, Hospital Universitario de Canarias, La Laguna, Santa Cruz de Tenerife, " "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "affb" ] 1 => array:3 [ "entidad" => "Servicio de Pediatría, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, " "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "affc" ] 2 => array:3 [ "entidad" => "Servicio de Ecografía y Medicina Fetal, Hospital Universitario de Canarias. La Laguna, Santa Cruz de Tenerife, " "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "affd" ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hiperecogenicidad prenatal del colon como signo precoz de cistinuria" ] ] "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" => "10636_108_13130_en_10636_f1.jpg" "Alto" => 605 "Ancho" => 818 "Tamanyo" => 56412 ] ] "descripcion" => array:1 [ "en" => "Hyperechogenic intestine with sound density similar to foetal bone" ] ] ] "textoCompleto" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">To the Editor, </span></p><p class="elsevierStylePara">Cystinuria is a hereditary disease caused by a defect in the renal and intestinal tubular transport affecting cystine and the dibasic amino acids (lysine, ornithine and arginine).<span class="elsevierStyleSup">1</span> It is transmitted as an autosomal recessive disorder and has a prevalence of about 1 in 7,000 live births, with a wide geographical variation and no predominance of sex. The clinical manifestations are effectively nephrolithiasis and its consequences (colic, haematuria, etc.) which usually occur in the second or third decades of life, although they can appear as early as the first year. It is the cause of 6%-10% of paediatric urolithiasis cases.<span class="elsevierStyleSup">2</span> The cystine stone formation is due to the excessive concentration of this amino acid in urine and its high insolubility, especially when the urine is acidic.</p><p class="elsevierStylePara">We had the opportunity of studying a child, currently three years old, who was referred by his paediatrician when he was five months old, after an episode of gross haematuria, which revealed the presence of a stone in the nappy. It was the first child of non-consanguineous parents, without any previous significant pathology, but with a history of renal colic on the paternal side of the family. Ultrasound foetal studies during pregnancy revealed a colon hyperechogenicity without other intestinal abnormalities (Figures 1 and 2), and a slightly increased nuchal luminescence, with no other findings of interest. As a result, a sweat test was performed at birth to rule out cystic fibrosis and the result was normal.</p><p class="elsevierStylePara">Subsequent ultrasound images revealed multiple bilateral stones, which grew to a diameter of 1.4cm. Persistently high cystine elimination was detected in the urine (maximum 656mg/g creatinine at 7 months old). The renal glomerular function is normal (serum creatinine 0.28mg/dl), although there was a defect in the ability to concentrate (689mOsm/kg) and elevated urinary excretion of microalbumin (microalbumin/creatinine ratio 33.9μg/μmol).</p><p class="elsevierStylePara">During its evolution, numerous small stones have been expelled (over 50 during the first year of life, measuring few mm in diameter), and the condition is otherwise asymptomatic. The weight-to-height ratio and psychomotor development during growth was normal. Pharmacological and dietary treatment with potassium citrate, captopril and D-penicillamine is currently being administered.</p><p class="elsevierStylePara">This is an early clinical presentation of cystinuria, reflecting the high lithogenic capacity of this condition. The particularity of the case is that the prenatal ultrasound found hyperechogenicity of the colon secondary to cystine crystal deposition. This form of presentation of cystinuria was described in 2006<span class="elsevierStyleSup">3</span> and was subsequently confirmed.<span class="elsevierStyleSup">4</span> The explanation for this finding is that the cystine crystals are formed in the foetal kidney, they enter the amniotic fluid and are then swallowed. The ultrasound finding of the foetal hyperechogenic colon has been traditionally related to cystic fibrosis, which was why the studies needed to rule out the disease were performed at birth. The negative result and early clinical symptoms led to the diagnosis. Knowledge of this association may facilitate an early diagnosis of the disease, thus establishing an appropriate treatment.</p><p class="elsevierStylePara"><a href="grande/10636_108_13130_en_10636_f1.jpg" class="elsevierStyleCrossRefs"><img src="10636_108_13130_en_10636_f1.jpg" alt="Hyperechogenic intestine with sound density similar to foetal bone "></img></a></p><p class="elsevierStylePara">Figure 1. Hyperechogenic intestine with sound density similar to foetal bone </p><p class="elsevierStylePara"><a href="grande/10636_108_13131_en_10636_f2.jpg" class="elsevierStyleCrossRefs"><img src="10636_108_13131_en_10636_f2.jpg" alt="A similar situation early in the second trimester "></img></a></p><p class="elsevierStylePara">Figure 2. A similar situation early in the second trimester </p>" "pdfFichero" => "P1-E515-S2802-A10636-EN.pdf" "tienePdf" => true "PalabrasClave" => array:1 [ "en" => array:3 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec441460" "palabras" => array:1 [ 0 => "Hyper-echogenic colon" ] ] 1 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec441462" "palabras" => array:1 [ 0 => "Cystinuria" ] ] 2 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec441464" "palabras" => array:1 [ 0 => "Nephrolithiasis" ] ] ] ] "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" => "10636_108_13130_en_10636_f1.jpg" "Alto" => 605 "Ancho" => 818 "Tamanyo" => 56412 ] ] "descripcion" => array:1 [ "en" => "Hyperechogenic intestine with sound density similar to foetal bone" ] ] 1 => array:8 [ "identificador" => "fig2" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "copyright" => "Elsevier España" "figura" => array:1 [ 0 => array:4 [ "imagen" => "10636_108_13131_en_10636_f2.jpg" "Alto" => 518 "Ancho" => 763 "Tamanyo" => 44555 ] ] "descripcion" => array:1 [ "en" => "A similar situation early in the second trimester" ] ] ] "bibliografia" => array:2 [ "titulo" => "Bibliography" "seccion" => array:1 [ 0 => array:1 [ "bibliografiaReferencia" => array:4 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Rousaud F, Palacín M, Nunes V. Cistinuria. Nefrología 2003; 23 Suppl 1: 52-59." "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 1 => array:3 [ "identificador" => "bib2" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Milliner DS, Murphy ME. Urolithiasis in pediatric patients. Mayo Clin Proc 1993; 68: 241-248.\u{A0} <a href="http://www.ncbi.nlm.nih.gov/pubmed/8474265" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 2 => array:3 [ "identificador" => "bib3" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Brasseur-Daudruy M, Garel C, Brossard V, Broux F, Heckettsweiler B, Eurin D. Hyper-echogenic colon: a prenatal sign of cystinuria? Prenat Diagn 2006; 26: 1254-1255. <a href="http://www.ncbi.nlm.nih.gov/pubmed/17089441" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 3 => array:3 [ "identificador" => "bib4" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Merieau E, Cloarec S, Benoist JF, Haddad G, Benoit S, Nivet H. An antenatal hyper-echogenic colon: question. Pediatr Nephrol 2009; 24: 277-279." 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| 2021 August | 64 | 36 | 100 |
| 2021 July | 64 | 31 | 95 |
| 2021 June | 49 | 25 | 74 |
| 2021 May | 45 | 29 | 74 |
| 2021 April | 125 | 63 | 188 |
| 2021 March | 59 | 28 | 87 |
| 2021 February | 51 | 19 | 70 |
| 2021 January | 53 | 17 | 70 |
| 2020 December | 35 | 18 | 53 |
| 2020 November | 48 | 18 | 66 |
| 2020 October | 37 | 11 | 48 |
| 2020 September | 38 | 8 | 46 |
| 2020 August | 41 | 16 | 57 |
| 2020 July | 47 | 21 | 68 |
| 2020 June | 25 | 22 | 47 |
| 2020 May | 52 | 16 | 68 |
| 2020 April | 55 | 10 | 65 |
| 2020 March | 63 | 12 | 75 |
| 2020 February | 63 | 17 | 80 |
| 2020 January | 92 | 19 | 111 |
| 2019 December | 72 | 17 | 89 |
| 2019 November | 54 | 18 | 72 |
| 2019 October | 74 | 23 | 97 |
| 2019 September | 46 | 20 | 66 |
| 2019 August | 38 | 13 | 51 |
| 2019 July | 42 | 25 | 67 |
| 2019 June | 40 | 17 | 57 |
| 2019 May | 44 | 32 | 76 |
| 2019 April | 108 | 46 | 154 |
| 2019 March | 45 | 21 | 66 |
| 2019 February | 46 | 21 | 67 |
| 2019 January | 51 | 16 | 67 |
| 2018 December | 112 | 39 | 151 |
| 2018 November | 173 | 20 | 193 |
| 2018 October | 147 | 15 | 162 |
| 2018 September | 77 | 11 | 88 |
| 2018 August | 64 | 17 | 81 |
| 2018 July | 56 | 11 | 67 |
| 2018 June | 56 | 12 | 68 |
| 2018 May | 62 | 12 | 74 |
| 2018 April | 65 | 6 | 71 |
| 2018 March | 66 | 6 | 72 |
| 2018 February | 71 | 13 | 84 |
| 2018 January | 34 | 2 | 36 |
| 2017 December | 81 | 18 | 99 |
| 2017 November | 38 | 11 | 49 |
| 2017 October | 47 | 9 | 56 |
| 2017 September | 41 | 13 | 54 |
| 2017 August | 39 | 9 | 48 |
| 2017 July | 33 | 14 | 47 |
| 2017 June | 53 | 10 | 63 |
| 2017 May | 54 | 8 | 62 |
| 2017 April | 35 | 5 | 40 |
| 2017 March | 25 | 3 | 28 |
| 2017 February | 33 | 4 | 37 |
| 2017 January | 17 | 13 | 30 |
| 2016 December | 50 | 3 | 53 |
| 2016 November | 58 | 8 | 66 |
| 2016 October | 99 | 11 | 110 |
| 2016 September | 74 | 3 | 77 |
| 2016 August | 133 | 5 | 138 |
| 2016 July | 153 | 9 | 162 |
| 2016 June | 148 | 0 | 148 |
| 2016 May | 147 | 0 | 147 |
| 2016 April | 126 | 0 | 126 |
| 2016 March | 115 | 0 | 115 |
| 2016 February | 108 | 0 | 108 |
| 2016 January | 133 | 0 | 133 |
| 2015 December | 138 | 0 | 138 |
| 2015 November | 112 | 0 | 112 |
| 2015 October | 104 | 0 | 104 |
| 2015 September | 80 | 0 | 80 |
| 2015 August | 61 | 0 | 61 |
| 2015 July | 82 | 0 | 82 |
| 2015 June | 20 | 0 | 20 |
| 2015 May | 50 | 0 | 50 |
| 2015 April | 5 | 0 | 5 |
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