Results 41 to 50 of about 5,396 (203)

Inherited Renal Tubulopathies—Challenges and Controversies [PDF]

Genes, 2020
Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism.
Daniela Iancu, Emma Ashton
openaire   +2 more sources

Addison’s disease associated with hypokalemia: a case report

Journal of Medical Case Reports, 2021
Background Primary adrenal insufficiency (Addison's disease) is a rare medical condition usually associated with hyperkalemia or normokalemia. We report a rare case of Addison's disease, coexisting with hypokalemia, requiring treatment. Case presentation
M. Abdalla, J. A. Dave, I. L. Ross
doaj   +1 more source

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2

Molecular Genetics and Metabolism Reports, 2021
The phenotype of individuals with glycogen storage disease (GSD) IX appears to be highly variable, even within subtypes. Features include short stature, fasting hypoglycemia with ketosis, hepatomegaly, and transaminitis.
J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee   +5 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Glomerular and Tubular Functions in Children and Adults with Transfusion-Dependent Thalassemia

Turkish Journal of Hematology, 2018
This study aimed at assessing renal functions in patients with transfusion-dependent thalassemia (TDT). Fifty patients and 30 controls were enrolled in this prospective study. Serum levels of electrolytes and albumin were measured by a spectrophotometer.
Agageldi Annayev, Zeynep Karakas, Serap Karaman, Altan Yalciner, Alev Yilmaz, Sevinc Emre   +5 more
doaj   +1 more source

Renal function impairment in children with intestinal failure receiving parenteral nutrition: A descriptive cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Children with intestinal failure are at risk for kidney dysfunction; however, the contributing factors are not well established. We aimed to describe risk factors associated with glomerular and tubular renal dysfunction in children with intestinal failure.
Amanda M. Braga da Mata, Heitor Pons Leite, Eduardo F. Hatanaka, Mariana Janiques Barcia Magalhães Fonseca, Marta Liliane de Almeida Maia, Giovana S. G. Sabio, Maria Fernanda C. de Camargo, Paulo C. Koch Nogueira   +7 more
wiley   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Review Article: Renal Safety Profiles of Tenofovir Alafenamide, Tenofovir Disoproxil Fumarate, and Entecavir for the Treatment of Chronic Hepatitis B Infection—General and Special Populations

Alimentary Pharmacology &Therapeutics, EarlyView.
Current first‐line NUCs show comparable renal safety profiles in CHB patients with no or mild kidney dysfunction, with growing evidence that favours TAF. Future prospective studies are needed to validate these findings, and more research should focus on CHB patients with diabetes mellitus who are at risk of CKD.
Lung‐Yi Mak, Tsung‐Hui Hu, Desmond Y. H. Yap   +2 more
wiley   +1 more source

Mitochondrial Dysfunction in Kidney Tubulopathies [PDF]

Annual Review of Physiology
Mitochondria play a key role in kidney physiology and pathology. They produce ATP to fuel energy-demanding water and solute reabsorption processes along the nephron. Moreover, mitochondria contribute to cellular health by the regulation of autophagy, (oxidative) stress responses, and apoptosis.
Hoogstraten, C.A., Hoenderop, J.G., Baaij, J.H.F. de   +2 more
openaire   +2 more sources

Survival and Renal Recovery in Newly Diagnosed Multiple Myeloma Patients Presenting With Dialysis‐Requiring Severe Renal Impairment

European Journal of Haematology, EarlyView.
ABSTRACT Background Severe renal insufficiency requiring dialysis in newly diagnosed multiple myeloma (NDMM) patients has been independently associated with poor survival outcomes. However, there is a paucity of data on factors predicting renal recovery and survival outcomes of these patients.
Rintu Sharma, Eshetu G. Atenafu, Esther Masih‐Khan, Harjot Vohra, Sita Bhella, Christine Chen, Vishal Kukreti, Guido Lancman, Anca Prica, A. Keith Stewart, Rodger Tiedemann, Suzanne Trudel, Chloe Yang, Donna Reece   +13 more
wiley   +1 more source