Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affect...Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affects the left posterolateral part of the diaphragm, while in 10% to 15% of cases it affects the right. Bilateral cases are extremely rare, accounting for less than 1% of cases. This malformation is estimated to occur at a frequency of around 1 in 3500 births, with a male predominance. The diaphragmatic defect causes the abdominal organs to rise into the thoracic cavity during critical phases of lung development. These anomalies result in bilateral pulmonary hypoplasia, a reduced number of pulmonary vessels, and pulmonary arterial hypertension (PAH). The combination of these anatomical and functional anomalies, in varying degrees, explains the wide variability of symptoms at birth. Diagnosis is usually made prenatally by ultrasound, which enables severe forms of the disease to be detected and appropriate management initiated. The prognosis remains generally grave, with a neonatal mortality rate of between 30% and 60% depending on the study, and around half of all children will have long-term sequelae.展开更多
Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due ...Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbs in abnormal positions, or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. The baby was a live preterm male, born to a 30-year-old multigravida, out of a non-consanguineous marriage via cesarean section. There was no liquor at the time of delivery. The baby did not cry immediately after birth and required resuscitation, followed by mechanical ventilation. Multiple congenital anomalies suggestive of Potter’s syndrome were noted including facial features, flattened nose, low protruding ear, retrognathism, and epicanthal folds with unilateral atresia of the choana. Chest X-ray showed small volume lung fields suggestive of pulmonary hypoplasia, and we had on ultrasonography bilateral polycystic kidney disease on ultrasonography. At 42 hours of life, the baby developed tachypnea and severe chest retractions and died due to respiratory insufficiency. Our case highlights the importance of regular prenatal checks and examinations in each pregnancy, which helps to collect suspected cases and improve knowledge of this syndrome for better management.展开更多
Background The present study was aimed to compare the effects of bilateral and unilateral bidirectional superior cavopulmonary shunt （b-BDG and u-BDG） on pulmonary artery growth and clinical outcomes. Methods The 51...Background The present study was aimed to compare the effects of bilateral and unilateral bidirectional superior cavopulmonary shunt （b-BDG and u-BDG） on pulmonary artery growth and clinical outcomes. Methods The 51 subjects enrolled in this study were divided into two groups： those receiving b-BDG （n=21） and those receiving u-BDG （n=30）. Clinical records were reviewed retrospectively at a mean of 43.3 months after BDG procedures. Chi square and t-tests were performed to analyze the data. Results Left and right pulmonary artery diameters increased 27%-37% in both groups. The pulmonary artery index increased 37.2% after b-BDG and 27.0% after u-BDG, b-BDG patients experienced a significant decrease in mean hemoglobin concentration and hematocrit value, and a correlated change in postoperative diameter of left pulmonary artery （LPA） and pulmonary artery index （y=0.2719, x=-1.8278; R=0.564, P=-0.008）. The change ratio of hemoglobin and postoperative LPA were also correlated in b-BDG patients （y= -0.0522x ＋ 0.3539; R=-0.479, P=-0.028）. Only one b-BDG patient versus twelve u-BDG patients needed total cavopulmonary connections 31.8 months after BDG surgery （P=-0.0074）. Moreover, only one （4.8%） b-BDG patient but eight u-BDG patients （26.7%） developed pulmonary arteriovenous malformations. Conclusions b-BDG increases bilateral pulmonary blood flow and promotes growth of bilateral pulmonary arteries, with preferable physiological outcomes to u-BDG. Results may imply that subsequent Fontan repair may not always be needed. Chin Med J 2009; 122（2）： 129-135展开更多
Pulmonary hypoplasia is a rare disease characterized by a defect of lung development more often unilateral. The diagnosis requires several exams to eliminate other causes of pulmonary retraction. We report two cases a...Pulmonary hypoplasia is a rare disease characterized by a defect of lung development more often unilateral. The diagnosis requires several exams to eliminate other causes of pulmonary retraction. We report two cases at the department of pneumophtisiology of the University Teaching Hospital of Point G. The first case is a young adult who was complaining of a chronic cough. Etiological investigation required several exams including spirometry and Computed tomographic scan (CT scan). After elimination of all suspected causes of pulmonary opacity, the diagnosis of pulmonary hypoplasia was retained. The second case is a 2-year-old girl who was born with congenital cardiopathy whose respiratory complications were increasing during her childhood and respiratory explorations discovered pulmonary agenesis. Pulmonary hypoplasia is rare in our medical practice, but attention must be drawn to a retractile pulmonary opacity in young age after elimination of all infectious causes in TB endemic area.展开更多
文摘Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affects the left posterolateral part of the diaphragm, while in 10% to 15% of cases it affects the right. Bilateral cases are extremely rare, accounting for less than 1% of cases. This malformation is estimated to occur at a frequency of around 1 in 3500 births, with a male predominance. The diaphragmatic defect causes the abdominal organs to rise into the thoracic cavity during critical phases of lung development. These anomalies result in bilateral pulmonary hypoplasia, a reduced number of pulmonary vessels, and pulmonary arterial hypertension (PAH). The combination of these anatomical and functional anomalies, in varying degrees, explains the wide variability of symptoms at birth. Diagnosis is usually made prenatally by ultrasound, which enables severe forms of the disease to be detected and appropriate management initiated. The prognosis remains generally grave, with a neonatal mortality rate of between 30% and 60% depending on the study, and around half of all children will have long-term sequelae.
文摘Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbs in abnormal positions, or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. The baby was a live preterm male, born to a 30-year-old multigravida, out of a non-consanguineous marriage via cesarean section. There was no liquor at the time of delivery. The baby did not cry immediately after birth and required resuscitation, followed by mechanical ventilation. Multiple congenital anomalies suggestive of Potter’s syndrome were noted including facial features, flattened nose, low protruding ear, retrognathism, and epicanthal folds with unilateral atresia of the choana. Chest X-ray showed small volume lung fields suggestive of pulmonary hypoplasia, and we had on ultrasonography bilateral polycystic kidney disease on ultrasonography. At 42 hours of life, the baby developed tachypnea and severe chest retractions and died due to respiratory insufficiency. Our case highlights the importance of regular prenatal checks and examinations in each pregnancy, which helps to collect suspected cases and improve knowledge of this syndrome for better management.
基金This work was supported by a grant from Beijing Natural Science Foundation （No. 7072049）.
文摘Background The present study was aimed to compare the effects of bilateral and unilateral bidirectional superior cavopulmonary shunt （b-BDG and u-BDG） on pulmonary artery growth and clinical outcomes. Methods The 51 subjects enrolled in this study were divided into two groups： those receiving b-BDG （n=21） and those receiving u-BDG （n=30）. Clinical records were reviewed retrospectively at a mean of 43.3 months after BDG procedures. Chi square and t-tests were performed to analyze the data. Results Left and right pulmonary artery diameters increased 27%-37% in both groups. The pulmonary artery index increased 37.2% after b-BDG and 27.0% after u-BDG, b-BDG patients experienced a significant decrease in mean hemoglobin concentration and hematocrit value, and a correlated change in postoperative diameter of left pulmonary artery （LPA） and pulmonary artery index （y=0.2719, x=-1.8278; R=0.564, P=-0.008）. The change ratio of hemoglobin and postoperative LPA were also correlated in b-BDG patients （y= -0.0522x ＋ 0.3539; R=-0.479, P=-0.028）. Only one b-BDG patient versus twelve u-BDG patients needed total cavopulmonary connections 31.8 months after BDG surgery （P=-0.0074）. Moreover, only one （4.8%） b-BDG patient but eight u-BDG patients （26.7%） developed pulmonary arteriovenous malformations. Conclusions b-BDG increases bilateral pulmonary blood flow and promotes growth of bilateral pulmonary arteries, with preferable physiological outcomes to u-BDG. Results may imply that subsequent Fontan repair may not always be needed. Chin Med J 2009; 122（2）： 129-135
文摘Pulmonary hypoplasia is a rare disease characterized by a defect of lung development more often unilateral. The diagnosis requires several exams to eliminate other causes of pulmonary retraction. We report two cases at the department of pneumophtisiology of the University Teaching Hospital of Point G. The first case is a young adult who was complaining of a chronic cough. Etiological investigation required several exams including spirometry and Computed tomographic scan (CT scan). After elimination of all suspected causes of pulmonary opacity, the diagnosis of pulmonary hypoplasia was retained. The second case is a 2-year-old girl who was born with congenital cardiopathy whose respiratory complications were increasing during her childhood and respiratory explorations discovered pulmonary agenesis. Pulmonary hypoplasia is rare in our medical practice, but attention must be drawn to a retractile pulmonary opacity in young age after elimination of all infectious causes in TB endemic area.
