Over the last 10 years, outstanding advances have been obtained in basic and clinical research on congenital anomalies of the kidney and urinary tract (CAKUT). From the molecular point of view, new generation sequencing has made crucial contributions to our understanding of the biology and pathophysiology of disrupted renal development, including the identification of associated genes and insights into the cellular pathophysiology. Approximately 40 different monogenic causes for human CAKUT have been identified so far. Nevertheless, currently only about 20% of CAKUT cases can be explained by these established monogenic causes. Therefore, it is likely that several additional monogenic causes of human CAKUT have yet to be identified.
Moreover, in addition to recognized heterogeneity, the identification of novel genes is complicated by variable expressivity and incomplete penetrance of CAKUT genes. In a near future, despite these difficulties and limitations, molecular genetic diagnoses might offer substantial advances to the clinical management of patients with CAKUT. For instance, identification of causative mutations will perhaps contribute to relevant aspects of pediatric care, including prognostic prediction of renal survival and the likelihood for the development of extrarenal complications. From the clinical point of the view, due to the recognized role played by CAKUT as primary cause of pediatric chronic kidney disease (CKD), early diagnosis and tailored management are of crucial importance to minimize renal damage and prevent or delay the onset of CKD. In this regard, over the last decade, an increasing number of renal anomalies are currently detected antenatally in otherwise uncomplicated pregnancies. As a matter of fact, the majority of CAKUT is currently detected by antenatal sonography, although many cases still remain undiagnosed until adulthood. The prenatal detection has permitted a refinement of the management.
A multidisciplinary team approach, including obstetrics, neonatologists, pediatric nephrologists, and pediatric urologists is clearly required to diagnose and treat these complex disorders. In spite of this outstanding progress, many issues remain to be solved in order to integrate these approaches into clinical practice. For instance, how do these genetic and clinical advances interact and have an impact on therapy and outcomes? In this Research Topic, we aim to approach the diverse field of genetic kidney diseases from multiple angles for readers with a general interest in pediatric nephrology.
Over the last 10 years, outstanding advances have been obtained in basic and clinical research on congenital anomalies of the kidney and urinary tract (CAKUT). From the molecular point of view, new generation sequencing has made crucial contributions to our understanding of the biology and pathophysiology of disrupted renal development, including the identification of associated genes and insights into the cellular pathophysiology. Approximately 40 different monogenic causes for human CAKUT have been identified so far. Nevertheless, currently only about 20% of CAKUT cases can be explained by these established monogenic causes. Therefore, it is likely that several additional monogenic causes of human CAKUT have yet to be identified.
Moreover, in addition to recognized heterogeneity, the identification of novel genes is complicated by variable expressivity and incomplete penetrance of CAKUT genes. In a near future, despite these difficulties and limitations, molecular genetic diagnoses might offer substantial advances to the clinical management of patients with CAKUT. For instance, identification of causative mutations will perhaps contribute to relevant aspects of pediatric care, including prognostic prediction of renal survival and the likelihood for the development of extrarenal complications. From the clinical point of the view, due to the recognized role played by CAKUT as primary cause of pediatric chronic kidney disease (CKD), early diagnosis and tailored management are of crucial importance to minimize renal damage and prevent or delay the onset of CKD. In this regard, over the last decade, an increasing number of renal anomalies are currently detected antenatally in otherwise uncomplicated pregnancies. As a matter of fact, the majority of CAKUT is currently detected by antenatal sonography, although many cases still remain undiagnosed until adulthood. The prenatal detection has permitted a refinement of the management.
A multidisciplinary team approach, including obstetrics, neonatologists, pediatric nephrologists, and pediatric urologists is clearly required to diagnose and treat these complex disorders. In spite of this outstanding progress, many issues remain to be solved in order to integrate these approaches into clinical practice. For instance, how do these genetic and clinical advances interact and have an impact on therapy and outcomes? In this Research Topic, we aim to approach the diverse field of genetic kidney diseases from multiple angles for readers with a general interest in pediatric nephrology.
