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Alport syndrome: an update.
Curr Opin Nephrol Hypertens
January 2025
The University of Melbourne Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, Parkville, Victoria, AUSTRALIA.
Purpose Of Review: The recent widespread availability of genetic testing has resulted in the diagnosis of many more people with Alport syndrome. This increased recognition has been paralleled by advances in understanding clinical consequences, genotype-phenotype correlations and in the development of new therapies.
Recent Findings: These include the international call for a change of name to 'Alport spectrum' which better reflects the diverse clinical features seen with autosomal dominant and X-linked Alport syndrome; the demonstration of how common Alport syndrome is in people with haematuria, proteinuria, or kidney failure; the inability of current genetic testing to detect all pathogenic variants in suspected Alport syndrome; the different genotype-phenotype correlations for autosomal dominant and X-linked disease; and the novel treatments that are available including SGLT2 inhibitors for persistent albuminuria despite renin-angiotensin-aldosterone blockade, as well as early studies of gene-modifying agents.
A Rare Sequela of Untreated Streptococcus Pharyngitis: A Case Report.
Laryngoscope
January 2025
Ohio University Heritage College of Osteopathic Medicine, Dublin, Ohio, U.S.A.
Pharyngitis is commonly caused by the gram positive bacteria, streptococcus. Given the potential morbid complications of untreated streptococcal pharyngitis, antibiotics are critical. One of the rarer complications is pulmonary-renal syndrome (PRS), defined as rapidly progressive glomerulonephritis and diffuse alveolar hemorrhage.
View Article and Find Full Text PDFis rarely associated with neurological manifestations. This report describes a rare case of endocarditis complicated by a cerebral stroke caused by . We also briefly reviewed the neurological clinical spectrum of disease described in the literature.
View Article and Find Full Text PDFA Case of IgA Nephropathy in a Patient With Sarcoidosis: Confirmation of Glomerular Galactose-Deficient IgA1 Deposition.
Case Rep Nephrol
January 2025
Division of Nephrology, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
A 63-year-old Japanese housewife was admitted to our hospital because of hematuria and proteinuria lasting for 3 months. At the age of 59 years, she was diagnosed with neurosarcoidosis at another hospital, and she received oral glucocorticoid therapy for 1 year. Her serum angiotensin-converting enzyme (ACE) and 1, 25-dihydroxyvitamin D levels were elevated.
View Article and Find Full Text PDFUrinary findings in a 12-year-old child, a rare case of Follicular Cystitis.
EJIFCC
December 2024
Department of Clinical Analysis, Hospital Can Misses, Eivissa, Spain.
Follicular cystitis (FC) is a chronic form of cystitis with uncertain etiology, characterized by the presence of lymphoid follicles in the bladder mucosa as a result of chronic irritation. This can be caused by various factors such as prolonged catheterization, lithiasis, recurrent urinary tract infections or neoplastic bladder pathology. Although it is a rare pathology, it is mainly seen in women over 50 years of age and manifests with nonspecific urinary symptoms such as dysuria, pollakiuria, haematuria and suprapubic pain.
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