Publications by authors named "M Kirschstein"
Article Synopsis
- * A study conducted whole exome sequencing (WES) on 100 CAKUT patients diagnosed in early life, identifying rare likely pathogenic variants in 25% of cases, with higher diagnostic success in those needing kidney replacement therapy (KRT) or having additional health issues.
- * WES can significantly improve diagnosis and treatment options for young CAKUT patients, allowing for early intervention and management of associated complications.
X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD) and extrarenal manifestations. In other X-linked diseases, skewed X-inactivation leads to preferential silencing of one X-chromosome and thus can determine the phenotype in females.
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- In the past two decades, research has established the distinct category of autoinflammatory diseases, emphasizing excessive innate immune response without autoantibody formation, differentiating them from autoimmune diseases.
- These conditions primarily present with recurrent fever episodes and inflammation, alternating with periods of wellness, with hereditary forms referred to as hereditary recurrent fever (HRF).
- Notable examples of HRF include familial Mediterranean fever and cryopyrin-associated periodic syndrome, while polygenic or non-hereditary forms include adult-onset Still's disease and PFAPA syndrome; all can lead to complications such as amyloid A amyloidosis.*
Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening microangiopathy, frequently causing kidney failure. Inhibition of the terminal complement complex with eculizumab is the only licensed treatment but mostly requires long-term administration and risks severe side effects. The underlying genetic cause of aHUS is thought to influence the severity of initial and recurring episodes, with milder courses in patients with mutations in membrane cofactor protein (MCP).
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