29 documents found, page 1 of 3

The Kidney Genetics Clinic: Delivering Precision Medicine for Kidney Patients

Molecular genetic testing in human traits has traditionally relied on affiliated academic facilities, been focused on specific phenotypes and supported by research funding. We report the experience of the Kidney Genetics Clinic (“consulta de Doenças Renais Hereditárias”) for the past 5 years, a period during which we have outsourced genetic testing. We evaluated the impact of molecular testing in patients’ care...

Zebrafish Model as a Screen to Prevent Cyst Inflation in Autosomal Dominant Pol...

In autosomal dominant polycystic kidney disease (ADPKD), kidney cyst growth requires the recruitment of CFTR (cystic fibrosis transmembrane conductance regulator), the chloride channel that is defective in cystic fibrosis. We have been studying cyst inflation using the zebrafish Kupffer's vesicle (KV) as model system because we previously demonstrated that knocking down polycystin 2 (PC2) induced a CFTR-mediate...

A Case of Bortezomib-Associated Thrombotic Microangiopathy in a Multiple Myelom...

Bortezomib is a first-generation proteasome inhibitor used in the treatment of multiple myeloma. We present a case of a 70-year-old woman with multiple myeloma, who presented thrombotic microangiopathy with multi-organ involvement thrombotic microangiopathy (ocular, cardiac, and renal) after bortezomib initiation. A kidney biopsy confirmed the diagnosis of thrombotic microangiopathy. A temporal relation between...

Effect of empagliflozin beyond glycemic control: Cardiovascular benefit in pati...

The prevalence of type 2 diabetes (T2D) continues to increase, and its association with cardiovascular (CV) disease has led to the inclusion of CV endpoints in clinical trials on the treatment of T2D. This article explores the various trials already performed and under development in this field, with particular focus on the EMPA-REG OUTCOME trial. In this trial, empagliflozin, a sodium-glucose co-transporter 2 ...

Nephrotic Syndrome in a Patient with Metastatic Melanoma: Beyond the Obvious

Nephrotic syndrome in a patient with metastatic melanoma can occur in the context of a paraneoplastic glomerulopathy or as a complica tion of treatment. New oncologic immunotherapies, including immune checkpoint inhibitors, have been frequently associated with interstitial nephritis and, in rare cases, with nephrotic syndrome. This article presents the case of a 52 -year -old man diagnosed with metastatic melan...

An Atypical Presentation of Thrombotic Microangiopathy After Lung Transplant: a...

Thrombotic microangiopathy (TMA) is a pathologic condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ injury due to microvascular endothelial lesions and thrombosis. It occurs in a variety of diseases and, unless recognized and treated, leads to severe morbidity and mortality. We present the case of a 48-year-old woman who underwent lung transplantation, initially under tacr...

Not the Usual Suspect

Effect of Empagliflozin Beyond Glycemic Control: Cardiovascular Benefit in Pati...

The prevalence of type 2 diabetes (T2D) continues to increase, and its association with cardiovascular (CV) disease has led to the inclusion of CV endpoints in clinical trials on the treatment of T2D. This article explores the various trials already performed and under development in this field, with particular focus on the EMPA-REG OUTCOME trial. In this trial, empagliflozin, a sodium-glucose co-transporter 2 ...

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as he...

Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, w...

The Na+ -Coupled Glucose Transporter SGLT2 Interacts with its Accessory Unit MA...

Na+ -glucose cotransporter 2 is the renal Na+ -coupled glucose transporter responsible for the tubular glucose reabsorption, while MAP17 was recently identified as its accessory unit. Mutations in either of the proteins' coding genes, SLC5A2 and PDZK1IP1, lead to urinary glucose excretion. To investigate whether MAP17 interacts with SGLT2 in vitro, we engineered a V5-tagged SGLT2 construct and evaluated HEK293T...