Brazilian Guidelines on evaluation and clinical management of Nephrolithiasis: Brazilian Society of Nephrology.

The prevalence of nephrolithiasis has been increasing in recent years, affecting appro-ximately 10% and 15% of the population. Kidney stone disease is associated with syste-mic comorbidities such as cardiovascular dis-ease, diabetes mellitus, and obesity. The first Nephrolithiasis Guideline by the Brazilian Society of Nephrology was published in 2002, and since then, the accumulation of new clinical studies and guidelines has justified a review of the subject.

Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges.

Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, endocrine, and dental anomalies. One of the main differential diagnoses is CHARGE syndrome, standing for and characterized by Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Restricted intellectual development, Genitourinary malformations, and Ear anomalies. Because these syndromes have similar characteristics, distinguishing them may be challenging.

Recommendations for diagnosis and treatment of Atypical Hemolytic Uremic Syndrome (aHUS): an expert consensus statement from the Rare Diseases Committee of the Brazilian Society of Nephrology (COMDORA-SBN).

Atypical hemolytic uremic syndrome (aHUS) is a rare cause of thrombotic microangiopathy (TMA) caused by the dysregulation of the alternative complement pathway. The diagnosis of TMA is made clinically by the triad: microangiopathic hemolytic anemia, thrombocytopenia, and organ damage (mainly acute kidney injury). The heterogeneity of clinical manifestation and the lack of a gold standard diagnostic test makes the precise diagnosis of aHUS a challenging process that may impact patient management.

Urinary Calcium Is Associated with Serum Sclerostin among Stone Formers.

Background: Sclerostin plays an important role in bone metabolism and adipose tissue. Animal studies suggest that sclerostin influences urinary calcium (UCa), but this relationship has not been evaluated in stone formers (SFs). We aimed to investigate the association of UCa with serum sclerostin, bone mineral density (BMD), and body composition among SFs.

Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry.

Background: Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease. Therefore, studies involving large samples are scarce, making registries powerful tools to evaluate cases. We present herein the first analysis of the Brazilian aHUS Registry (BRaHUS).