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Many patients with inborn errors of metabolism, due to early diagnosis and improved management, are living longer with less disease burden. Several are now having families of their own. This poses challenges both for the metabolic control of the mother and potential secondary effects on the fetus, as well as the risk of inheriting the inborn error. Classical homocystinuria (HCU, OMIM 236200) is a rare multisystem condition with intellectual, skeletal, ocular, and thromboembolic complications. Ireland has included HCU in the National Newborn Bloodspot Screening Program since 1971. The European network and registry for homocystinurias and methylation defects (E-HOD) guidelines outline the requirements for management and monitoring of this condition and associated complications. Pregnancy alone has many potential complications. When combined with an underlying condition such as HCU, which is prothrombotic and requires a highly medicalized diet, there are significantly increased risks to both mother and baby. Colleagues previously published an Irish case of maternal HCU with successful pregnancy outcome. We add five pregnancies to two women with classical HCU to the literature. We use these to highlight the importance of careful metabolic control and managing the predictable HCU associated risks during pregnancy and the postpartum period. Our cases demonstrate the potential for healthy pregnancies in HCU and that this is best achieved with a motivated clinical team and good patient engagement. Only small numbers of pregnancies in HCU have been reported and we are still learning best practice, but proactive management is essential, as in any inborn error of metabolism.
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Fabry disease (FD) is a rare, X-linked inherited disease of glycosphingolipid metabolism due to deficiency of lysosomal α-galactosidase A activity. Scarce activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide (Gb3) within lysosomes, believed to trigger a flow of cellular changes that lead to the clinical manifestation of the disease. We present a 23-year-old male with renal variant of FD who was born from non-affected parents, which, to the best of our knowledge, has not been reported in the literature so far. In conclusion, FD can occur due to sporadic GLA gene mutation. Pure renal involvement might be associated with progressive disease which leads to end-stage renal disease within a short period. Physicians should have a high index of suspicion for FD especially in male cases with unexplained renal failure that are slowly progressive in nature, even in the absence of a clear hereditary component. Early renal biopsy is recommended in any progressive renal impairment.
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OBJECTIVE: To identify the mutations underlying a number of inborn errors of metabolism (IEM) disorders among United Arab Emirates (UAE) residents. METHODS: Molecular diagnostic and bioinformatics tools were used to identify the causative mutations of IEM disorders from multi-ethnic patients residing in UAE. The study was conducted in Al-Ain, UAE, between April 2009 and September 2010. This is a case series retrospective study where patients attending the metabolic clinic at Tawam Hospital were recruited. Thirty patients and 26 parents were included. RESULTS: We present evidence in the UAE of 7 new mutations and 19 mutations that have previously been reported in other populations, all causing a number of common IEM disorders, including phenylketonuria, maple syrup urine disease, glycogen storage diseases, beta-ketothiolase deficiency, and Zellweger syndrome among many others. CONCLUSION: Reflecting the diverse ethnic groups residing in the UAE, we found mutations in several different population groups. However, consanguinity is evident in most cases. This report is of utmost importance for taking the necessary steps toward the prevention of inherited disorders, not just in the UAE, but anywhere in the world where these Arab and Asian populations reside, or where consanguinity is a cultural norm.
Assuntos
Genética Populacional , Erros Inatos do Metabolismo/genética , Mutação , Humanos , Estudos Retrospectivos , Emirados Árabes UnidosRESUMO
Injuries by foreign bodies are a common problem in children, and sewing needles are not uncommonly found foreign bodies. Cutaneous foreign bodies are also occasionally seen, and these patients are referred to dermatologists because of skin findings resulting from body reactions. In this report we present an unusual case of a foreign body presenting as a linear skin eruption.
Assuntos
Reação a Corpo Estranho/diagnóstico por imagem , Reação a Corpo Estranho/cirurgia , Dermatopatias/diagnóstico por imagem , Dermatopatias/cirurgia , Humanos , Lactente , Masculino , RadiografiaRESUMO
OBJECTIVE: To investigate whether a short interpregnancy interval is a risk factor for preterm birth in Emirati women, where there is a wide range of interpregnancy intervals and uniformity in potentially confounding factors. METHODS: A case-control design based on medical records was used. A case was defined as a healthy multiparous Emirati woman delivering a healthy singleton spontaneously before 37 weeks of gestation between 1997 and 2000, and a control was defined as the next eligible similar woman delivering after 37 weeks of gestation. Women were excluded if there was no information available about their most recent previous pregnancy or if it had resulted in a multiple or preterm birth. Data collected from charts and delivery room records were analysed using the STATA statistical package. All variables found to be valid, stable and significant by univariate analysis were included in multivariate logistic regression analysis. FINDINGS: There were 128 cases who met the eligibility criteria; 128 controls were selected. Short interpregnancy intervals were significantly associated with case status (P<0.05). The multivariate adjusted odds ratios for the 1st, 2nd, and 4th quartiles of interpregnancy interval compared with the lowest-risk 3rd quartile were 8.2, 5.4, and 2.0 (95% confidence intervals: 3.5-19.2, 2.4-12.6, and 0.9- 4.5 respectively). CONCLUSION: A short interpregnancy interval is a risk factor for spontaneous preterm birth in Emirati women. The magnitude of the risk and the risk gradient between exposure quartiles suggest that the risk factor is causal and that its modification would reduce the risk of preterm birth.