RESUMEN
@#Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Type-II is a congenital defect in the Mullerian duct that results in the absence of a uterus in women. The aetiology of this syndrome is unknown and has been considered a sporadic genetic disease. MRKH, together with anorectal anomaly, is an extremely rare condition and has only been reported in a few cases without any information on genetic analysis. This study investigated the mutational profile of a girl diagnosed with MRKH and anorectal anomalies with rectovaginal fistula. The whole exome sequencing (WES) trio-genetic analysis of a 5-year-old Malaysian girl diagnosed with MRKH (having anorectal anomaly with rectovaginal fistula) was performed together with her normal parents, using the Ion AmpliSeq Exome RDY kit (ThermoFisher Scientific, USA). Data were analysed using Torrent Suite v.5.0.4 and annotated using ANNOVAR. Single nucleotide polymorphisms (SNPs) with an allele frequency >0.01 were excluded, and the remaining variants were filtered based on de novo mutations, autosomal recessive, and autosomal recessive genetic traits. Related genes were analysed by biological pathway analysis (g:Profiler) and protein-protein interaction (HIPPIE v.2.3, STRING v.11.5, dan GeneMANIA). A total of 36 mutations were identified, and two of them, the LHX5 (p.P358Q), inherited from the father, and CFTR (p.R1158X), inherited from the mother. There were 28 de-novo mutations from 28 genes. All genes were involved in 27 biological processes that connected with 23 interactions, and are likely to cause MRKH syndrome in this patient.
RESUMEN
Objective: Contrast-enhanced ultrasound has become increasingly utilised as an alternative imaging modality for the diagnosis of vesicoureteric reflux (VUR) in paediatric patients. The study objective is to evaluate the efficacy of contrast enhanced Voiding Urosonography (ce-VUS) compared with fluoroscopic micturating cystourethrography (MCU) in the detection of VUR. Methods: This prospective study was carried out between July 2011 and January 2013 on paediatric patients who underwent MCU. All consented patients would undergo ceVUS prior to MCU. We documented the epidemiology details, the number of Kidney-Ureter (K-U) unit studied, baseline renal and bladder sonogram, as well as presence of VUR on ce-VUR. The technique for ce-VUS was standardized using normal saline to fill the bladder prior to administration of SonoVue® (2.5 ml) to assess the kidney-ureter (K-U) unit. Dedicated contrast detection software was used to discern the presence of microbubbles in the pelvicaliceal system (PCS). The findings were then compared with MCU. Results: 27 paediatric patients were involved in the study [17 males (63%) and 10 females (37%)] involving 55 K-U units (one patient had a complete duplex system). MCU detected VUR in 10 K-U units while ce-VUS detected VUR in 8 out of the 10 K-U units. There were 2 false negative cases (both Grade 1) with ce-VUS. The sensitivity, specificity, accuracy, positive predictive value, and negative predictive value of ce-VUS were 80%, 98%, 95%, 89% and 96%, respectively. Conclusion: ce-VUS is a sensitive and specific radiation-free alternative for the detection of VUR in the paediatric population.