Severe polyhydramnios as neonatal presentation of Bartter's syndrome type IV / Polihidrâmnios grave como manifestação neonatal da síndrome de Bartter tipo IV

Abstract Introduction: Bartter's syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter's syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter's syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter's syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.

Resumo Introdução: a síndrome de Bartter inclui um grupo heterogéneo de tubulopatias hereditárias perdedoras de sal. Existem duas formas de apresentação clínica: clássica e neonatal, a forma mais grave. Os tipo I e II representam a maioria dos casos neonatais. Os tipos III e V são geralmente menos graves. Caracteristicamente, a síndrome de Bartter tipo IV é uma nefropatia perdedora de sal com sintomas neonatais ligeiros a graves, com um aspeto especí- fico - surdez neurossensorial. A síndrome de Bartter tipo IV é o tipo menos comum das formas recessivas da doença. Descrição: relatamos o primeiro caso de uma criança portuguesa, com surdez neurossensorial, poliúria, polidipsia e restrição de crescimento, nascida prematuramente devido a polihidrâmnios grave, homozigótica para a mutação G47R do gene BSND, responsável pela síndrome de Bartter tipo IV. Discussão: são raros os casos publicados sobre síndrome de Bartter tipo IV atribuída a esta mutação, e a maioria referem-se a diagnósticos mais tardios, com manifestações clínicas ligeiras. A fraca correlação fenótipo-genótipo combinada com a raridade desta síndrome tornam o diagnóstico pré-natal desafiante. Perante um caso de polihidrâmnios grave em um feto sem malformações aparentes, cariótipo normal e após exclusão de patologia materna, as doenças autossómicas recessivas, incluindo as tubulopatias, devem ser sempre consideradas.

Síndrome de Bartter: una tubulopatía infrecuente de inicio antenatal / Bartter syndrome: an infrequent tubulopathy of prenatal onset

INTRODUCCIÓN: Síndrome de Bartter (SB) es una tubulopatía hereditaria, poco frecuente que tiene dos formas de presentación, forma grave de inicio antenatal (Bartter neonatal) y forma de aparición más tardía (Bartter clásico). En su forma antenatal se manifiesta con poliuria fetal, polihidroamnios de inicio precoz y severo, parto prematuro secundario y restricción de crecimiento intrauterino. La etapa postnatal presenta episodios recurrentes de deshidratación y desbalance electrolítico que pue den comprometer la sobrevida del paciente. OBJETIVO: Comunicar un caso de SB neonatal y presentar una revisión de la literatura en esta patología. CASO CLÍNICO: Prematuro 35 semanas, con antecedente de severo polihidroamnios diagnosticado a las 27 semanas de gestación, sin causa aparente. Desde su nacimiento evolucionó con poliuria y alcalosis metabólica hipokalémica haciendo plantear, en primera semana de vida, diagnóstico de Síndrome de Bartter neonatal. El laboratorio confirmó per didas urinarias de electrólitos. Fue manejado con balance hídrico estricto y suplementación de sodio y potasio, logrando estabilizar peso y desbalance electrolítico. Se mantiene en control nefrológico, con suplementación de gluconato de potasio y cloruro de sodio. Se agregó ibuprofeno al cuarto mes como parte del tratamiento. Al séptimo mes de vida, ecografía renal demostró nefrocalcinosis. Al año de vida se evidenció hipoacusia sensorioneural profunda requiriendo implante coclear. CONCLUSIÓN: Presencia de polihidroamnios severo de aparición temprana sin causa identificada debe hacer sospechar SB, que aun siendo infrecuente determina graves alteraciones hidroelectrolíticas y debe ser iniciado su tratamiento precozmente.

INTRODUCTION: Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte im balance that can compromise the survival of the patient. OBJECTIVE: To report a clinical case of neo natal BS and a review of the literature. CLINICAL CASE: Premature newborn of 35 weeks of gestation with history of severe polyhydramnios diagnosed at 27 weeks of gestation, without apparent cause. From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. The patient was treated with strict water balance and sodium and potassium supplementa tion, achieving weight and electrolyte imbalance stabilization. The patient remains in control in the nephrology unit, with potassium gluconate and sodium chloride supplementation. At the fourth month, ibuprofen was added as part of treatment. At the seventh month of life, renal ultrasound showed nephrocalcinosis. At one year of life, profound sensorineural hearing loss was observed re quiring a cochlear implant. CONCLUSION: The presence of severe polyhydramnios of early onset with no identified cause should lead to suspicion of neonatal BS which even when infrequent determines severe hydroelectrolytic alterations and should be treated early.

Reporte de segundo caso en Cuba de clorhidrorrea congénita / Report of a second congenital chloride diarrhea case in Cuba

La clorhidrorrea congénita es un raro desorden autosómico recesivo, causado por un defecto en el intercambio de cloruro/bicarbonato en el íleon y colon. En este trabajo se reporta el caso de un niño de 1 año de edad con características patognomónicas de esta condición, consistentes en antecedentes prenatales de polihidramnios, diarreas acuosas desde el nacimiento, poca ganancia de peso, alcalosis metabólica y deshidratación. El diagnóstico fue confirmado por el elevado contenido de cloruro en heces, y es el segundo caso reportado en la literatura cubana.

Congenital chloride diarrhea is a rare autosomal recessive disorder caused by a defective exchange of chloride and bicarbonate in the ileum and the colon. This article reported the case of one-year old child with pathognomonic characteristics of this disease including prenatal history of polyhydramnios, watery diarrheas since birth, low weight gain, metabolic alkalosis and dehydration. The diagnosis was confirmed on the basis of the high contents of chloride in stools. He is the second case of this disease reported in the Cuban literature.

A altura uterina é capaz de diagnosticar os desvios do volume de líquido amniótico? / Is uterine height able to diagnose amniotic fluid volume deviations?

OBJETIVO: Avaliar o desempenho de uma curva de altura uterina (AU) quanto à capacidade de rastrear desvios do volume de líquido amniótico, utilizando uma curva brasileira de índice de líquido amniótico (ILA) como padrão-ouro. MÉTODOS: O presente estudo representa um corte transversal no qual foram incluídas 753 gestantes em acompanhamento pré-natal na rede pública de João Pessoa (PB) no período de março a outubro de 2006 e que tiveram um exame de ultrassonografia (US) de rotina agendado para depois da 26ª semana de idade gestacional. Foram excluídos os casos com diagnóstico de gestação gemelar, óbito fetal intrauterino e malformações fetais maiores. Além de informações sociodemográficas, foram coletados também os valores da AU medida de forma padronizada, os valores do peso fetal estimado, do ILA e a idade gestacional pelo exame de US. A capacidade da curva de AU em predizer os desvios do volume de líquido amniótico foi avaliada tendo uma curva brasileira de ILA em função da idade gestacional como padrão-ouro. Para isso, foram estimados a sensibilidade, especificidade e valores preditivos positivo e negativo para diferentes pontos de corte. RESULTADOS: A medida da AU identificou 10,5% das mulheres como AU baixa e possivelmente associada ao oligoâmnio, e 25,2% como AU alta e possivelmente associada ao polidrâmnio. Utilizando uma curva brasileira de referência para ILA, a AU foi capaz de predizer pobremente a ocorrência de oligoâmnio (sensibilidade variando entre 37 a 28%) e de forma razoável a ocorrência de polidrâmnio (sensibilidade variando entre 88 a 69%). CONCLUSÃO: A medida da altura uterina mostrou um desempenho ruim para predizer oligoâmnio e um desempenho razoável para predizer polidrâmnio. Sua utilização para essa finalidade só se justifica, portanto, em situações nas quais o exame ultrassonográfico não esteja fácil e rotineiramente disponível, a fim de ajudar na priorização dos casos que deveriam ter esse exame realizado.

PURPOSE: To evaluate the performance of a Brazilian reference curve of fundal height (FH) regarding its capacity of screening the deviations of volume of amniotic fluid using a Brazilian reference curve of amniotic fluid index (AFI) as gold standard. METHODS: This was a cross-sectional study evaluating 753 pregnant women receiving prenatal care at the public health services of João Pessoa (PB), from March to October 2006, who had a routine ultrasound exam scheduled for after 26 weeks of gestational age. Cases with diagnoses of twin pregnancy, intrauterine fetal death and major fetal malformations were excluded. Besides socio-demographic information, data regarding fundal height measured in a standard way, estimated fetal weight, AFI and gestational age at the time of the ultrasound exam were also collected. The capacity of the FH curve to predict deviations of the amniotic fluid volume was assessed using the Brazilian curve of AFI according to gestational age as the gold standard. For this purpose, sensitivity, specificity, positive and negative predictive values were estimated for different cut-off points. RESULTS: The measurement of FH identified 10.5% of women as having low FH possibly associated with oligohydramnios and 25.2% as having high FH possibly associated with polyhydramnios. Using a Brazilian reference curve of AFI, the FH was able to poorly predict the occurrence of oligohydramnios (sensitivity ranging from 37 to 28%) and to reasonably predict the occurrence of polyhydramnios (sensitivity ranging from 88 to 69%). CONCLUSIONS: The measurement of fundal height showed a poor performance for predicting oligohydramnios and a reasonable performance for predicting polyhydramnios. Its use for this purpose is then only supported in settings where the ultrasound exam is not easily or routinely available in order to help define priorities for cases that should have this exam performed.

Asymptomatic horn rudimentary pregnant uterine rupture with a viable fetus

Rupture of pregnant rudimentary horn in a pseudounicornuate uterus is usually resulting in severe and dramatic haemoperitoneum at the beginning of the second trimester of gestation. Advanced abdominal pregnancy due to horn rudimentary uterine rupture with delivery of a viable fetus is exceptional. To analyse obstetrical entailments, diagnosis and current concepts of management of advanced abdominal pregnancy secondary to rudimentary horn rupture. An asymptomatic ruptured rudimentary horn pregnancy in a 31-year-old, second gravida, is reported. She was referred to our maternity for anhidramnios at estimated gestational ge of 30 weeks. An advanced abdominal pregnancy was diagnosed with sonographic features suggestive of horn rudimentary uterine rupture. Elective laparotomy was performed and a healthy infant was delivered. Excision of the rudimentary horn was done and an uneventful recovery followed. An unusual sonographic appearance of the placenta with anhidramnios must first lead to consider the diagnosis of advanced abdominal pregnancy in time to save the surgeon from an unpleasant and dangerous surprise and to increase the chance of matemo-fetal survival

Obstrucción duodenal: diagnóstico prenatal y manejo / Duodenal obstruction: prenatal diagnosis and management

Se presentan cinco casos de obstrucción duodenal diagnosticados como parte de un estudio multicéntrico destinado a la detección y evaluación prenatal de anomalías estructurales fetales. Se analizan las características ultrasonográficas, evolución prenatal y manejo, como así también los resultados citogenéticos obtenidos. Se presenta además una breve revisión del tema y se discute la necesidad de ofrecer diagnóstico citogenético prenatal en todos los casos y amniodrenaje en aquellos complicados con polihidroamnios severo

Diagnóstico ultrasonográfico de polihidramnios y su asociación con malformacines congénitas / Ultrasound diagnosis of polyhydramnios and its association with congenital malformations

Se realizó un estudio prospectivo en el Hospital de Gineco-Obstetricia del Instituto Mexicano del Seguro Social en León, Guanajuato, con el objetivo de evaluar la asociación entre polihidramnios y 100 pacientes con cantidad de líquido amniótico normal (grupo testigo). El diagnóstico de polihidramnios se efectuó mediante ultrasonido con la técnica de medición única y el índice de líquido amniótico. Las pacientes con polihidramnios tuvieron en promedio una medición máxima de 9.3 centímetros y un índice de cuatro cudrantes de 27.0 centímetros. Se presentaron 24 casos de productos malformados en las pacientes con polihidramnios y ningún caso en las pacientes con líquido amniótico normal (P<0.01) las malformaciones más frecuentes fueron: atresia esofágica (25 por ciento), anenecefalia (21 por ciento) y persistencia del conducto arterioso (21 por ciento). Existieron seis casos de muertes perinatales en las pacientes con polihidramnios, cinco de las cuales tenían malformaciones, en tanto que en el grupo testigo no se presentaron pérdidas fetales (P<0.01). Estos hallazgos obligan a tratar de llegar a un diagnóstico precoz del polihidramnios y por consiguiente descartar la presencia de malformaciones congénitas asociadas, con la finalidad de ofrecer un mejor pronóstico y en su caso un tratamiento oportuno

Polihidramnios y su relación con malformaciones congénitas: diagnóstico ultrasonográfico / Polyhydramnios and its relationship with congenital malformations: ultrasonographic diagnosis

Se analizó la ocurrencia de polihidramnios durante el embarazo y su asociación con malformaciones congénitas del producto y alteraciones maternas. Se realizó un estudio retrospectivo, descriptivo y transversal, que incluyó 6087 pacientes embarazada a la cuales se les realizó estudio ultrasonográfico de enero 1 de 1991 a diciembre 31 de 1993. Se incluyeron en la muestra final 72 pacientes que reunieron el criterio de polihidramnios más expediente clínico completo; se recabaron datos con la finalidad de conocer historia reproductiva y factores de riesgo asociados a polihidramnios y malformaciones congénitas del producto. La ocurrencia de polihidramnios durante el embarazo fue de 1.1 por ciento y su asociación con malformaciones congénitas de 13.8 por ciento sobresaliendo los defectos del tubo neural. Las alteraciones maternas fueron relacionadas en 13.7 por ciento con polihidramnios la diabetes gestacional fue una causa primaria; la anencefalia presentó una asociación estadísticamente significativa (P < 0.05). La ocurrencia de polohidramnios es baja en la población obstétrica; los defectos del tubo neural como la anencefalia son causas primarias de este trastorno. La diabetes gestacional y la gestación múltiple son los estados maternos principalmente asociados

Hidrops Fetal no Inmune

Se revisan los aspectos generales de la etiología, fisiopatología, diagnóstico y manejo del Hidrops Fetal no Inmune para que durante el control prenatal, con un mejor conocimiento de esta entidad, se considere como posibilidad diagnóstica, y permita la realización de nuevos estudios sobre incidencia, etiología y manejo en nuestro medio

Indomethacin treatment of polyhydramnios, a controlled study

Indomethacin has recently been used to treat polyhydramnios. It is not known if its use will prolong pregnancy. A controlled study was undertaken to evaluate its use and its side effects. 23 pregnant mothers with polyhydramnios were studied. 14 patients were given indomethacin, 9 patients acted as a control. In the indomethacin group, the mean gestational age before starting therapy was 30.1 SD 3.5 weeks and 37.07 SD 3.4 at the time of delivery. The mean duration of indomethacin treatment was 17.2 days. The mean of the largest amniotic fluid pocket depth was 10.07 SD 1.5 before treatment, and after treatment, it was 5.9 cm SD 1.8 cm. In the control group, no change in liquor volume occurred in 5 cases, in one case hydramnios resolved spontaneously and in 3 cases liquor volume increased. The mean gestational age at the time of delivery was 37 weeks SD 3.8. The mean birth weight in the indomethacin group was 2828.2 grams [gm.] SD 659 and for the control group it was 3111 SD 1004 gm. There was no neonatal cardiovascular, renal or coagulation problems. The follow-up period was 1 year. There were 2 perinatal deaths in the control group and 1 perinatal and 1 neonatal death in the indomethacin group. It is concluded that indomethacin therapy in polyhydramnios did not prolong pregnancy

Mola Hidatiforme parcial e polidrâmnios / Partial hydatiform mole and polyhydramnios

A 22 years old, gravida 3, para 2 woman was admitted to the hospital with preterm labor which was a 23rd week pregnancy. The diagnosis of partial hydatiform mole and polydramnios was made after delivery and confirmed by histologic findings. The post-operative did not present any aspect worth registering. The patient was discharged two days after delivery in excellent conditions.