Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions.

[Retinal Vein Occlusions].

As retinal vein occlusion is such a complex systemic disease, its underlying risk profile should be narrowed down individually. Ophthalmologists should always rule out glaucoma or ocular hypertension while also screening the patient for systemic vascular diseases or risk factors in particular. Intravitreally applied medication (VEGF inhibitors or steroids) and laser coagulation (focal or panretinal) or a combination thereof can be considered to treat such retinal anomalies.

Perioperative Management of Coagulation Disorders in Ophthalmic Surgery.

Disorders of blood coagulation can lead to manifest spontaneous bleeding and an increased risk of bleeding during surgical procedures and interventions. Pathophysiologically, a distinction can be made between defects in primary haemostasis, which lead to impaired platelet adhesion and platelet aggregation, and disorders of secondary (plasmatic) haemostasis, which are characterised by impaired fibrin formation or fibrin stabilisation. Aetiologically, a distinction can be made between rare genetically-determined hereditary defects and common acquired coagulation disorders, which may be based on different pathomechanisms.

[DOG-EyeTeacher: a response by the Teaching Association to the medical study restructuring].

Background: The Masterplan Medicine 2020 adopted in 2017 entails many changes to the medical studies curriculum. The new structure affects the content of the coursework and its main focus. A major goal of this masterplan is to prepare young physicians by teaching the skills that are essential for the future profession.