Unknown etiology is commonly encountered in the kidney pre-transplant routine program. A screening program was performed to detect patients and study recipients that meet the following features: hypertension with no clear etiology and biopsies that do not match with clinical features of classical glomerulopathies.
Bleeding of unknown cause is a group of rare disorders that are still difficult to accurately diagnose. A case report on a patient with hematoma in the perineal region after her first delivery was presented.
Bleeding of unknown cause (BUC) is a diagnosis of exclusion, and it is common for these patients to have congenital platelet function disorders. Whole-exome sequencing may help reach a more accurate diagnosis in these cases.
Inborn errors of immunity comprise a group of several diseases, the most severe of which are immunodeficiency disorders. The latter are characterized by defective T-cell functioning leading to impaired immunity.
Researchers from Children’s Hospital of Philadelphia presented data from a study that linked variants in DNA methyltransferase 1-associated protein 1 (DMAP1) to a novel neurodevelopmental disorder.
Bone development is a continuous process, but in some cases, soft tissues can mineralize due to some anomalies in repairing processes, thus leading to heterotopic ossification (HO). Max Planck Institute for Molecular Genetics researchers aimed to find the genetic causes tied to this abnormal bone-formation disorder.
Congenital anomalies of the kidneys and urinary tract (CAKUT) remain the main cause of chronic kidney disease before the age of 25 years, and account for about 40% of childhood end-stage renal diseases. Studies in Xenopus species have shown ENPP6 knockdown to lead to impaired pronephros development, and mutations in the ENPP6 paralogue PIGN gene have been tied to CAKUT.
