scholarly journals Unusually difficult clinical presentation of an infant suffering from congenital cytomegalovirus (CMV) infection combined with alpha 1-antitrypsin (A1AT) deficiency

2014 ◽  
Vol 24 (3) ◽  
pp. 396-402 ◽  
Author(s):  
Ines Potočnjak ◽  
Goran Tešović ◽  
Andrea Tešija Kuna ◽  
Mario Štefanović ◽  
Orjena Žaja
Keyword(s):  
Clinical Presentation ◽  
Cmv Infection ◽  
Congenital Cytomegalovirus ◽  
A1at Deficiency ◽  
Alpha 1 Antitrypsin

Severe fetal anaemia caused by congenital cytomegalovirus infection

2021 ◽  
Vol 14 (10) ◽  
pp. e244585
Author(s):  
Claudia Salazar-Sanchez ◽  
Pedro Llancarí ◽  
Rommy H Novoa ◽  
Walter Ventura
Keyword(s):  
Pregnant Woman ◽  
Fetal Growth ◽  
Umbilical Cord Blood ◽  
Cytomegalovirus Infection ◽  
Peak Systolic Velocity ◽  
Cmv Infection ◽  
Congenital Cytomegalovirus Infection ◽  
Congenital Cytomegalovirus ◽  
Fetal Medicine ◽  
Fetal Infection

A 22-year-old pregnant woman was referred to our fetal medicine unit due to severe fetal growth restriction at 26 weeks of gestation. An extensive detailed ultrasound revealed signs of bilateral periventricular hyperechogenicity, suggesting fetal infection potentially due to cytomegalovirus (CMV). Doppler ultrasound showed a high peak systolic velocity in the middle cerebral artery. Percutaneous umbilical cord blood sampling confirmed fetal CMV infection and severe fetal anaemia. We present this case to highlight the importance of fetal anaemia, which can be fatal regardless of whether it is associated with generalised oedema or hydrops fetalis.

Alpha-1-antitrypsin deficiency: diagnosis and treatment (literature review)

2021 ◽  
pp. 12-24
Author(s):  
Е.А. Ларшина ◽  
Н.В. Милованова ◽  
Е.А. Каменец
Keyword(s):  
Liver Disease ◽  
Genetic Disorder ◽  
New Drugs ◽  
Chronic Obstructive ◽  
Diagnosis Delay ◽  
Loss Of Function ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
A1at Deficiency ◽  
Alpha 1 Antitrypsin

Недостаточность альфа-1-антитрипсина - наследственное заболевание, характеризующееся низким уровнем белка альфа-1-антитрипсина (A1AT) в крови. В основном дефицит A1AT проявляется в виде хронической обструктивной болезни легких (ХОБЛ), эмфиземы, а также поражения печени и сосудов. А1АТ является главным ингибитором сериновых протеаз в крови человека. Недостаточность А1АТ обусловлена мутациями в гене SERPINA1. Наиболее распространенными аллельными вариантами в гене SERPINA1 являются S (p.Glu288Val) и Z (р.Glu366Lys), однако в клинической практике большинство случаев тяжелого дефицита А1АТ связаны с генотипом PIZZ. У пациентов с PIZZ патология легких представляет собой фенотип «потери функции», так как дефицит A1AT приводит к ускоренному разрушению паренхимы легких, приводящему к эмфиземе. При Z-мутации 85% синтезированного белка блокируется в гепатоцитах из-за неправильного сворачивания и полимеризации. Накопление полимеризованного белка в эндоплазматической сети гепатоцитов в свою очередь приводит к хроническим заболеваниям печени у некоторых пациентов: циррозу и злокачественным новообразованиям печени. Дефицит А1АТ является довольно распространенным заболеванием, но выявляется лишь незначительная часть лиц с данной патологией. Недостаточность А1АТ зачастую ошибочно диагностируется как ХОБЛ, бронхиальная астма или криптогенное заболевание печени. Задержка в установлении диагноза составляет обычно более 5 лет (в среднем около 8 лет) что, как правило, связано с плохой осведомленностью врачей, недооценкой его распространенности и вариабельностью клинических проявлений. В настоящее время для лечения дефицита А1АТ с легочными проявлениями возможно применение аугментационной терапии, основанной на внутривенном введении очищенного человеческого А1АТ. Также активно ведется поиск новых препаратов, способных улучшить прогноз у пациентов с патологией печени. Современные подходы в лечении дефицита А1АТ, сосредоточенные на генной терапии, становятся перспективным направлением в лечении как легочной, так и печеночной патологии при дефиците А1АТ. Alpha-1 antitrypsin deficiency is a genetic disorder characterized by low level of alfa-1-antitripsin protein (A1AT) in the blood. Usually, A1AT deficiency results in chronic obstructive pulmonary disease (COPD), emphysemas, liver disease and vessels damaging. A1AT is the main inhibitor of serine proteases in human blood. A1AT deficiency is caused by mutations in the gene SERPINA1. The most common SERPINA1 allelic variants are S (p.Glu288Val) and Z (p.Glu366Lys). However, the most of documented severe cases of A1AD are associated with PIZZ genotype. PIZZ genotype patients have loss-of-function phenotype due to accelerated lung parenchyma destruction resulting in emphysema. Z mutation genotype leads to blocking of 85% synthesized protein in hepatocytes due to wrong folding and polymerization. Accumulation of the bodied protein in hepatocytes endoplasmic reticulum results in chronic liver disease, cirrhosis and other liver pathologies. A1AT deficiency is a common disorder, however, this diagnosis is established in a small part of the patients. A1AT deficiency is often misdiagnosed as COPD, asthma or сryptogenic liver disease. Usually, due to underestimating the prevalence of the disease and its unspecific symptoms, the diagnosis delay is more than 5 years (on average about 8 years). Nowadays it is possible to treat lung form of A1AT deficiency used the augmentation therapy, that bases on intravenous infusions of pure human A1AT. Also, the active development of new drugs to improve the prognosis in the patients with liver pathology is ongoing. Modern approaches of A1AT deficiency treatment, focused on gene therapy, are becoming a promising direction in the managing of both pulmonary and hepatic pathology with A1AT deficiency.

scholarly journals Clinical and ultrasound features associated with congenital cytomegalovirus infection as potential predictors for targeted newborn screening in high-risk pregnancies

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hitomi Imafuku ◽  
Hideto Yamada ◽  
Akiko Uchida ◽  
Masashi Deguchi ◽  
Tokuro Shirakawa ◽  
...  
Keyword(s):  
Preterm Delivery ◽  
Medical Center ◽  
Clinical Manifestations ◽  
High Sensitivity ◽  
Clinical Findings ◽  
Youden Index ◽  
Cmv Infection ◽  
Fetal Abnormality ◽  
Congenital Cytomegalovirus ◽  
Fetal Abnormalities

AbstractThis prospective cohort study aimed to determine clinical factors associated with congenital cytomegalovirus (CMV) infection in pregnancy. Newborns born at a perinatal medical center received PCR analyses for CMV-DNA in their urine with informed consent. Clinical data, including age, maternal fever or flu-like symptoms, complications, ultrasound fetal abnormality, gestational weeks at delivery, and birth weight, were collected. Logistic regression analyses determined clinical findings associated with congenital CMV infection (cCMV). cCMV was diagnosed in 32 of 4380 pregnancies. Univariate and multivariable analyses revealed that age < 25 years old (OR 2.7, 95% CI 1.1–6.6; p < 0.05), the presence of maternal fever or flu-like symptoms (5.4, 2.6–11.2; p < 0.01), ultrasound fetal abnormalities (12.7, 5.8–27.7; p < 0.01), and preterm delivery at less than 34 gestational weeks (2.6, 1.1–6.0; p < 0.05) were independent clinical findings associated with cCMV. A combination of maternal fever/flu-like symptoms, ultrasound fetal abnormalities, or preterm delivery at less than 34 gestational weeks as optimal predictive factors showed 90.6% sensitivity, 66.4% specificity, and a maximum Youden index of 0.57. CMV-DNA tests in the urine of newborns born to mothers with these clinical manifestations may be an effective method in detecting cCMV as a targeted screening with a high sensitivity.

Congenital Cytomegalovirus Infection: A Cause of Renal Dysplasia?

2007 ◽  
Vol 10 (4) ◽  
pp. 300-304 ◽  
Author(s):  
Maren Chan ◽  
Jonathan L. Hecht ◽  
Theonia Boyd ◽  
Seymour Rosen
Keyword(s):  
Viral Infections ◽  
Tissue Injury ◽  
Clinical Manifestations ◽  
Renal Dysplasia ◽  
Cmv Infection ◽  
Congenital Cytomegalovirus Infection ◽  
Congenital Cytomegalovirus ◽  
Wide Range ◽  
The Central Nervous System ◽  
Multicystic Dysplasia

Cytomegalovirus (CMV) infection is one of the most frequently encountered viral infections of the fetus and induces a wide range of histologic and clinical manifestations. Congenital abnormalities are typically restricted to the central nervous system despite evidence of CMV inclusions occurring in most epithelial cells. Although tissue injury and even glomerulonephritis have been observed in congenital CMV infections, renal multicystic dysplasia has not been reported. Herein, we describe a case of unilateral renal dysplasia in a 19-week fetus with concurrent CMV infection. We believe the present case to be the first description of a virus apparently inducing renal multicystic dysplasia.

The obstetrician, congenital cytomegalovirus, clinical and diagnostic approaches to the pregnant woman

2015 ◽  
Vol 36 (4) ◽  
pp. 194
Author(s):  
Antonia W Shand
Keyword(s):  
Magnetic Resonance Imaging ◽  
Pregnant Woman ◽  
Fetal Mri ◽  
Maternal Infection ◽  
Resonance Imaging ◽  
Cmv Infection ◽  
Serological Screening ◽  
Congenital Cytomegalovirus ◽  
Fetal Infection ◽  
Diagnostic Approaches

There is low awareness of congenital cytomegalovirus (CMV) in Australia. Routine pregnancy serological screening for CMV is not recommended, but all pregnant women should be given advice about CMV prevention. Obstetricians may be asked to see a pregnant woman when serology suggests CMV infection or when features of fetal infection are present on ultrasound. If maternal CMV infection is confirmed, the timing of infection (pre-pregnancy or gestation of pregnancy), must be determined to predict the fetal risks. In addition, it is important to establish whether maternal infection is primary or reactivation. If there is fetal infection, ultrasound can be used to attempt to establish whether the fetus may have been affected. Serial serology, CMV IgG avidity, maternal viraemia (using serum PCR), amniotic fluid CMV PCR, serial fetal ultrasounds, and possibly fetal MRI (magnetic resonance imaging) are investigations that may be useful to predict neonatal outcomes. Timely and accurate counselling is important to optimise maternal and neonatal management.

scholarly journals Should You Follow the Better-Hearing Ear for Congenital Cytomegalovirus Infection and Isolated Sensorineural Hearing Loss?

2019 ◽  
Vol 162 (1) ◽  
pp. 114-120 ◽  
Author(s):  
Vanessa Torrecillas ◽  
Chelsea M. Allen ◽  
Tom Greene ◽  
Albert Park ◽  
Winnie Chung ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Early Onset ◽  
Medical Center ◽  
Antiviral Treatment ◽  
Sensorineural Hearing ◽  
Cmv Infection ◽  
Congenital Cytomegalovirus ◽  
Delayed Onset ◽  
Hearing Thresholds

Objective To describe the progression of sensorineural hearing loss (SNHL) in the better- and poorer-hearing ears in children with asymptomatic congenital cytomegalovirus (CMV) infection with isolated SNHL. Study Design Longitudinal prospective cohort study. Setting Tertiary medical center. Subjects and Methods We analyzed hearing thresholds of the better- and poorer-hearing ears of 16 CMV-infected patients with isolated congenital/early-onset or delayed-onset SNHL identified through hospital-based CMV screening of >30,000 newborns from 1982 to 1992. Results By 12 months of age, 4 of 7 patients with congenital/early-onset SNHL developed worsening thresholds in the poorer-hearing ear, and 1 had an improvement in the better-hearing ear. By 18 years of age, all 7 patients had worsening thresholds in the poorer-hearing ear and 3 patients had worsening thresholds in the better-hearing ear. Hearing loss first worsened at a mean age of 2 and 6 years in the poorer- and better-hearing ears, respectively. Nine patients were diagnosed with delayed-onset SNHL (mean age of 9 years vs 12 years for the poorer- and better-hearing ears), 6 of whom had worsening thresholds in the poorer-hearing ear and 1 in both ears. Conclusion In most children with congenital CMV infection and isolated SNHL, the poorer-hearing ear worsened earlier and more precipitously than the better-hearing ear. This study suggests that monitoring individual hearing thresholds in both ears is important for appropriate interventions and future evaluation of efficacy of antiviral treatment.

scholarly journals Congenital Cytomegalovirus Infection Masquerading as Antenatal Ventriculomegaly With Intraventricular Hemorrhage in a Term Neonate

2019 ◽  
Vol 10 (1) ◽  
pp. 55-57
Author(s):  
Deepanjan Bhattacharya ◽  
B. N. Anil Kumar ◽  
Inusha Panigrahi ◽  
Anupriya Kaur
Keyword(s):  
Intraventricular Hemorrhage ◽  
Term Neonate ◽  
Preterm Neonates ◽  
Cmv Infection ◽  
Congenital Cytomegalovirus Infection ◽  
Positive Polymerase Chain Reaction ◽  
Congenital Cytomegalovirus ◽  
Left Lateral Ventricle ◽  
Polymerase Chain ◽  
Occipital Horn

Intraventricular hemorrhage is an uncommon manifestation of congenital cytomegalovirus (CMV) infection and has been described in preterm neonates. We discuss a term neonate, who was referred because of intracranial hemorrhage and hydrocephalous detected in the antenatal ultrasound. She had cholestatic jaundice, hepatitis, and thrombocytopenia, with positive polymerase chain reaction for CMV. Neuroimaging revealed reduced sulcation, mildly enlarged ventricles, and multiple periventricular cysts, along with residual hemorrhage in occipital horn of left lateral ventricle. She was started on ganciclovir, following which there was improvement in platelet count, jaundice, as well as transaminase levels.

Neonatal screening for congenital cytomegalovirus infection in Tehran, Iran, using Guthrie cards

2020 ◽  
Author(s):  
Samileh Noorbakhsh ◽  
Mohammad Farhadi ◽  
Faezeh Haghighi ◽  
Sara Minaeian ◽  
Morteza Haghighi Hasanabad
Keyword(s):  
Early Stage ◽  
Limited Data ◽  
Cmv Infection ◽  
Congenital Cytomegalovirus ◽  
Congenital Cmv Infection ◽  
Effective Counseling ◽  
Total Dna ◽  
Guthrie Cards ◽  
Congenital Cmv

Background and Objectives: Cytomegalovirus (CMV) constitutes the most common viral cause of congenital infections in newborns worldwide. There are a significant number of asymptomatic newborns with congenital CMV infection in Iran, which may develop long-term sequelae of infection. Unfortunately, limited data exsists from Iran on the rate of congenital CMV infection among neonates. The current study was aimed to investigate the prevalence of congenital CMV infection among Iranian neonates by testing Guthrie cards. Materials and Methods: Guthrie cards were collected from infants within 2 weeks of life, and total DNA was extracted from samples by thermal shock and evaluated for CMV DNA using nested-PCR assay. CMV infection in newborns was confirmed through a commercial CMV PCR kit. Infected infants underwent further evaluation at the hospital. Results: CMV infection was identified in four of 1174 infants (0.34%) which is approximately 3 cases per 1000 live births. Infected infants were asymptomatic at birth and had a normal hearing status similar to other children. There were no factors in relation with CMV infection among newborns. Conclusion: According to the results of this study, infected infants with congenital CMV infection could identify at early stage by testing Guthrie cards (within 21 days of life). Furthermore, since there is a lack of CMV knowledge in our popula- tion, educating and effective counseling by obstetricians/ gynecologists to the pregnant women are recommended.  

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