The etiology of congenital nephrotic syndrome: current status and challenges

Background

Congenital nephrotic syndrome (CNS), defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema presenting in the first 0-3 months of life, may be caused by congenital syphilis, toxoplasmosis, or congenital viral infections (such as cytomegalovirus). However, the majority of CNS cases are caused by monogenic defects of structural proteins that form the glomerular filtration barrier in the kidneys. Since 1998, an increasing number of genetic defects have been identified for their involvements in the pathogenesis of CNS, including NPHS1, NPHS2, WT1, PLCE1, and LAMB2.

Data sources

We searched databases such as PubMed, Elsevier and Wanfang with the following key words: congenital nephrotic syndrome, proteinuria, infants, neonate, congenital infection, mechanism and treatment; and we selected those publications written in English that we judged to be relevant to the topic of this review.

Results

Based on the data present in the literature, we reviewed the following topics: 1) Infection associated CNS including congenital syphilis, congenital toxoplasmosis, and congenital cytomegalovirus infection; 2) genetic CNS including mutation of NPHS1 (Nephrin), NPHS2 (Podocin), WT1, LAMB2 (Laminin-β2), PLCE1 (NPHS3); 3) Other forms of CNS including maternal systemic lupus erythematosus, mercury poisoning, renal vein thrombosis, neonatal alloimmunization against neutral endopeptidase.

Conclusion

At present, the main challenge in CNS is to identify the cause of disease for individual patients. To make a definitive diagnosis, with the exclusion of infection-related CNS and maternal-associated disorders, pathology, family history, inheritance mode, and other accompanying congenital malformations are sometimes, but not always, useful indicators for diagnosing genetic CNS. Next-generation sequencing would be a more effective method for diagnosing genetic CNS in some patients, however, there are still some challenges with next-generation sequencing that need to be resolved in the future.

     

Trends in hospitalizations for diagnosed congenital cytomegalovirus in infants and children in Australia

Background  

Cytomegalovirus (CMV) is responsible for a wide range of diseases in neonates, and has been recognized as a major cause of congenital defects in developed countries for many years. More children suffer serious disabilities caused by congenital CMV than by several better-known childhood maladies. Insight into the epidemiology of congenital CMV disease is needed for the assessment of preventive strategies.     

Radiographic findings in late-presenting congenital diaphragmatic hernia: helpful imaging findings

Background  

Imaging findings in delayed presentation of congenital diaphragmatic hernia can be confusing and misleading, resulting in a delay in diagnosis.     

Aspects of esophageal atresia in a population-based setting: incidence,mortality, and cancer risk

Purpose  

To estimate the incidence, mortality and cancer risk of the congenital malformation esophageal atresia (EA) in a population-based investigation.     

Preliminary Report on Neonatal Screening for Congenital Hypothyroidism,Congenital Adrenal Hyperplasia and Glucose-6-Phosphate Dehydrogenase Deficiency: A Chandigarh Experience

Objective  

To establish newborn screening in Indian scenario that could lay a framework for future such initiatives. Three disorders namely, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and glucose-6-phosphate dehydrogenase deficiency (G-6-PDD) were selected for a preliminary study for newborn screening.     

Early experience with thoracoscopic repair of congenital diaphragmatic hernias in pediatric age group: results and lessons learned

Purpose  

To describe the surgical technique, initial results, and overview indications of thoracoscopic repair of congenital diaphragmatic hernia.     

Minimally invasive technique for the concealed penis lead to longer penile length

Objectives  

The aim of this study is to report a simple and minimally invasive surgical technique for congenital concealed penis repair.     

Advances in diagnosis and treatment of pulmonary arterial hypertension in neonates and children with congenital heart disease

Background  

This article aims to review recent advances in the diagnosis and treatment of pulmonary arterial hypertension in neonates and children with congenital heart disease.     

Diagnostic Re-evaluation of children with congenital hypothyroidism

Objectives  

To investigate the causes of congenital hypothyroidism in children more than 3 years of age and to document the frequency of transient vs permanent hypothyroidism.     

Unilateral absence of pulmonary artery in children: bronchovascular anatomy,natural course and effect of treatment on lung growth

Background  

Unilateral absence of pulmonary artery (UAPA) is a rare congenital anomaly with few published studies focusing on anatomy and outcome.     

Three-dimensional cine MRI in free-breathing infants and children with congenital heart disease

Background  

Patients with congenital heart disease frequently have complex cardiac and vascular malformations requiring detailed non-invasive diagnostic evaluation including functional parameters.     

Lung hypoplasia and its associated major congenital abnormalities in perinatal death: An autopsy study of 850 cases

Objective  

To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths.     

Interventional occlusion of congenital vascular malformations

Background  

New materials and devices have been used in the management of cardiac malformations. In this paper, we present our experience with interventional occlusion of congenital vascular malformations.     

Trans-anastomotic tubes reduce the need for central venous access and parenteral nutrition in infants with congenital duodenal obstruction

Purpose  

To determine the effect of trans-anastomotic tube (TAT) feeding on outcome following repair of congenital duodenal obstruction (CDO).     

Imaging of congenital mesoblastic nephroma with pathological correlation

Background  

There are a variety of imaging findings for congenital mesoblastic nephroma (CMN) and two main pathological variants: classic and cellular.     

Management of isolated and associated colonic atresia

Purpose  

Colonic atresia is a rare cause of congenital intestinal obstruction in the neonate. A review of the management and outcome of children with colonic atresia was performed.     

Indications for thoracoscopic repair of congenital diaphragmatic hernia in neonates

Purpose  

We reviewed 26 consecutive cases of congenital diaphragmatic hernia (CDH) prospectively to establish selection criteria for successful thoracoscopic CDH repair (TR).     

Systematic review of hydroxychloroquine use in pregnant patients with autoimmune diseases

Objective  

The purpose of this study is to compare the incidence of congenital defects, spontaneous abortions, number of live births, fetal death and pre-maturity in women with autoimmune diseases taking HCQ during pregnancy.     

Clinical practice: pulmonary hypertension in children

Introduction  

Pulmonary arterial hypertension is a rare disorder in childhood, the two most common types being idiopathic pulmonary arterial hypertension and pulmonary hypertension associated with congenital left-to-right shunt lesions, together accounting for almost 90% of cases.     

Heterogeneous tissue in the thyroid fossa on ultrasound in infants with proven thyroid ectopia on isotope scan—a diagnostic trap

Background  

Thyroid imaging is of proven help in establishing a diagnosis of congenital hypothyroidism in infants. US often shows tissue in the thyroid fossa when radionuclide scintigraphy reveals only ectopic uptake.