FCGG renal biopsy network : first epidemiological report on pediatric renal diseases

Objective: In 2016, a regional renal biopsy network was founded as a collaboration between renal pathologists and nephrologists in order to standardize diagnosis and therapy. Uniform renal biopsy request and renal biopsy report forms were introduced, together with a new comprehensive list of renal pathology diagnoses for coding. The 2017-2018 epidemiological data of the pediatric patients (age= 0-17 years) are presented. Methods: Following informed consent and in compliance with GDPR, data registration consists of basic patient and categorical renal data, semi-structured medical information of renal histopathology and the clinical renal disease. Results: In 2017-2018, 92 renal biopsies were reported in pediatric patients or 3.6 per 100,000 pediatric inhabitants per year. Three clinical patterns were equally represented: only proteinuria >1g/day; only hematuria; and combination of proteinuria and hematuria. Acute or chronic renal failure were rare. In the youngest age group (0-5 years; N=26) minimal change disease predominated, followed by Henoch-Schönlein nephritis. The middle age group (6-11 years; N=32) mainly presented with disease characterized by hematuria: IgA nephropathy, Henoch-Schönlein nephritis and Alport’s disease. A more diverse renal disease spectrum was present in the highest age group (12-18 years; N=34): IgA nephropathy, different forms of proliferative glomerulonephritis and of nephrotic syndrome of childhood. Patients with a Caucasian descent presented with IgA nephropathy, while a nephrotic syndrome was more common in those without a Caucasian descent. Alport’s disease was particularly diagnosed in female patients, IgA nephropathy in male patients, and the gender distribution was equal in minimal change disease. Conclusion: The FCGG network provides an better cross-talk between renal pathologists and nephrologists. For the first time, reliable estimates of pediatric renal diseases based on histology are available. Genetic analyses are not yet included. Efforts to coordinate clinical care of pediatric renal diseases are ongoin

FCGG Renal Biopsy Network: first epidemiological report on pediatric renal disease in Flanders

FCGG Renal Biopsy Network: first epidemiological report on pediatric renal diseases Sevasti Karamaria1, Johan De Meester2, Amélie Dendooven3, Elena Levtchenko4, Noel Knops4, Koen Van Hoeck5, Dominique Trouet5, Reiner Mauel6, Ben Sprangers7, Wim Laurens8, Johan Vande Walle1, on behalf of the FCGG – NBVN working group 1 Department of Pediatrics, UZ Gent, Ghent; 2NBVN, Antwerp; 3Pathology Department, UZ Gent, Ghent; 4Department of Pediatrics, UZ Leuven, Leuven; 5Departement of Pediatrics, UZ Antwerpen, Antwerp; 6Department of Pediatrics, UZ Brussel, Brussels; 7Department of Nephrology, UZ Leuven, Leuven; 8Department of Nephrology, AZ Nikolaas, Sint-Niklaas. Objective: In 2016, a regional renal biopsy network was founded as a collaboration between renal pathologists and nephrologists in order to standardize diagnosis and therapy. Uniform renal biopsy request and renal biopsy report forms were introduced, together with a new comprehensive list of renal pathology diagnoses for coding. The 2017-2018 epidemiological data of the pediatric patients (age= 0-17 years) are presented. Methods: Following informed consent and in compliance with GDPR, data registration consists of basic patient and categorical renal data, semi-structured medical information of renal histopathology and the clinical renal disease. Results: In 2017-2018, 92 renal biopsies were reported in pediatric patients or 3.6 per 100,000 pediatric inhabitants per year. Three clinical patterns were equally represented: only proteinuria >1g/day; only hematuria; and combination of proteinuria and hematuria. Acute or chronic renal failure were rare. In the youngest age group (0-5 years; N=26) minimal change disease predominated, followed by Henoch-Schönlein nephritis. The middle age group (6-11 years; N=32) mainly presented with disease characterized by hematuria: IgA nephropathy, Henoch-Schönlein nephritis and Alport’s disease. A more diverse renal disease spectrum was present in the highest age group (12-18 years; N=34): IgA nephropathy, different forms of proliferative glomerulonephritis and of nephrotic syndrome of childhood. Patients with a Caucasian descent presented with IgA nephropathy, while a nephrotic syndrome was more common in those without a Caucasian descent. Alport’s disease was particularly diagnosed in female patients, IgA nephropathy in male patients, and the gender distribution was equal in minimal change disease. Conclusion: The FCGG network provides an better cross-talk between renal pathologists and nephrologists. For the first time, reliable estimates of pediatric renal diseases based on histology are available. Genetic analyses are not yet included. Efforts to coordinate clinical care of pediatric renal diseases are ongoing

Nephrogenic diabetes insipidus in a patient with L1 syndrome:A new report of a contiguous gene deletion syndrome including L1CAM and AVPR2

We report on.in infant boy \vitli congenital hydrocephatLis CILle to 1.1 syndrorne and p0lyUria dne to diabetes itisipidtis. We initially believed Ins excessive Lirine loss was froin central diabetes insipidLIS and diat the cerebral inalforniation caused a secondary insufficient pitnitary vasopressin release. However, lie failed to respond to treatnient with a vasopressin analOgLie, wliicli pointed to neplirogenic diabetes insipidus (NDI). LI syndrorne and X-linked NDI are distinct clinical disorders caLISed J-)y inutations in the LICAM and A'VTR2 genes, respectively, located in adjacent positions in Xq28. In this boy we foLind a deletion of 61,577 basepairs enconipassing the entire LlCAM and A 11711?2 genes and extending into introit 7 of the APJ-IGAI-'4 gene. To oLir knowledge this is the first description of a patient Nvitli a deletion of these diree genes. He is the second patient to be described with Ll syndrorne and NDL DUI-ing fOIIO\V-LIJ) lie inanifested cornplications front the hydroceplialLis and NI)l inClUding global developniental delay and gro, vtli faikire -,vith low IGF-I and liypotliyroidisni. (c) 2008 wile\'-Liss Inc

Bortezomib for autoimmune hemolytic anemia after intestinal transplantation

AIHA is rare in the general population and associated with a mortality of 8%. In contrast, AIHA occurs in up to 12.2% of cases after intestinal transplantation and is associated with mortality up to 50%. Treatment entails a "step-up" approach including corticosteroids, IvIg, plasmapheresis, and rituximab. However, AIHA after transplantation often is refractory to this strategy, contributing to a poor outcome. We describe a child with microvillous inclusion disease who developed AIHA 1 year after multivisceral transplantation that was refractory to standard therapy and was subsequently treated with bortezomib.We observed remission of AIHA within 1 week after the start of bortezomib. Bortezomib was associated with transient diarrhea, leucopenia, and elevated liver enzymes. Three years later, he remains in remission without important complications. Published data on bortezomib for autoimmune cytopenias outside SOT are discussed. This is the first report to support bortezomib as an important therapeutic alternative for AIHA after SOT. The occurrence and treatment of AIHA after SOT, and specifically intestinal transplantation, should be the subject of future registry studies to collect additional experience and explore the optimal therapeutic approach.status: publishe