In this article, we discuss the differential diagnosis of cystic kidney diseases based on a case of oro-facio-digital syndrome type 1. Establishing the correct diagnosis requires a multidisciplinary approach that includes clinical, radiologic, and genetic evaluations to better understand the prognosis, renal and extra-renal management, and specific genetic implications of each disease. Our case illustrates the importance of a detailed personal and family history taking and the significant diagnostic input provided by new genetic sequencing techniques.

The year 2023 witnessed a number of significant advances in understanding and managing kidney disease. Among these figure the discoveries concerning the genetic variants in the gene encoding apolipoproteine L1 (APO-L1), shown to be closely associated with an increased risk of developing chronic kidney disease, particularly among populations of African or African-American descent. The precise mechanisms by which these APO-L1 variants contribute to the development of kidney disease have not been fully elucidated. Nevertheless, several studies have suggested that these variants may lead to an impaired podocyte function at the glomerular level. The discovery of the links between APO-L1 abnormalities and kidney disease has actually opened new perspectives for research pertaining to the development of targeted therapies. Understanding how these genetic variants influence the progression of kidney disease could similarly allow for the development of more effective prevention and treatment strategies, in addition to the identification of high-risk patient subgroups.

A new therapeutic approach to anemia in chronic kidney disease was made available last year. Roxadustat (EvrenzoR) belongs to a class of drugs known as hypoxia-inducible factor (HIF) prolyl hydroxylase inhibitors. These drugs act on the HIF-dependent erythropoiesis. Unlike the traditional treatment of kidney-disease-associated anemia consisting of subcutaneous or intravenous injections of recombinant erythropoietin (EPO), Evrenzo is administered orally. Consequently, this more convenient administration route could improve patient compliance and simplify the therapeutic process. In addition, in most patients, roxadustat was demonstrated to exhibit a safety and tolerability profile similar to that of recombinant EPO.

Another 2023 breakthrough was the approval of imlifidase in kidney transplantation. Imlifidase is a proteolytic enzyme that acts by selectively cleaving IgG antibodies. This agent can be employed to desensitize patients with high levels of pre-existing antibodies against human leukocyte antigen (HLA) antigens, meaning that transplantation could be considered even in the presence of immunological incompatibility with the donor. This approach may help improve access to transplantation for hyper-immunized patients.

These novelties developed in 2023 will gradually be implemented in clinical practice in 2024.

Primary hyperoxaluria Type I (PH1) is an autosomal recessive disease caused by the functional defect of hepatic alanine-glyoxylate aminotransferase, which results in overproduction of oxalate. The condition can be especially devastating for the kidneys, leading to end-stage renal disease (ESRD) during the first two to three decades of life in most patients. Currently, while the conservative treatment options are limited, they often prove inefficient in preventing ESRD. Consequently, many PH1 patients require kidney transplantation, and liver transplantation as well, which is currently the only definitive treatment option for counteracting the hepatic metabolic defect. Nevertheless, a therapeutic revolution is underway. Indeed, innovative drugs are currently being tested in clinical trials, and some preliminary data reveal their impressive efficacy in reduce hepatic oxalate overproduction. This paper reviews the current knowledge on this subject.