Results 71 to 80 of about 5,396 (203)

Approach to a Child with Hypophosphatemia

Biomolecules
Hypophosphatemia is a rare ion disorder in children, but it carries the risk of serious clinical sequelae in tissues and organs with high energy requirements, such as bone tissue.
Agnieszka Antonowicz, Patryk Lipiński, Michał Popow, Piotr Skrzypczyk   +3 more
doaj   +1 more source

IgG‐Secreting Lymphoplasmacytic Lymphoma Presenting With Massive Kidney Infiltration

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Various factors related to lymphoplasmacytic lymphoma (LPL) can lead to kidney complications; however, LPL‐related kidney complications are not as well‐described as those with multiple myeloma. Here, we report a case of IgG‐secreting LPL presenting with acute kidney injury owing to direct tumor infiltration.
Yuichi Nakamura, Yoshihiro Itoh, Tomoyuki Sakamoto, Emi Kakegawa, Yasuhito Terui, Taichi Tarusawa, Tsutomu Inoue, Hirokazu Okada, Keisuke Ishizawa, Taketo Yamada   +9 more
wiley   +1 more source

A Turkish BCS1L mutation causes GRACILE-like disorder

The Turkish Journal of Pediatrics, 2016
A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died
Esra Serdaroğlu, Şahin Takcı, Heike Kotarsky, Onur Çil, Eda Utine, Şule Yiğit, Vineta Fellman   +6 more
doaj   +1 more source

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders

Clinical Genetics, Volume 108, Issue 5, Page 495-510, November 2025.
A growing number of genetic variants linking non‐autoimmune diabetes to NDDs across different ages offer key insights about a common background of these phenotypes. These findings call for multidisciplinary approaches to care that integrate metabolic and neurological management in affected children.
Gabriele Di Pasquale, Camilla Valsecchi, Giulia Marie Smylie, Vincenzo Salpietro, Gian Vincenzo Zuccotti, Maurizio Delvecchio, Chiara Mameli   +6 more
wiley   +1 more source

Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene

Endocrinology, Diabetes & Metabolism Case Reports, 2017
HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes.
María Clemente, Alejandro Vargas, Gema Ariceta, Rosa Martínez, Ariadna Campos, Diego Yeste   +5 more
doaj   +1 more source

Prevalence of inherited changes of uric acid levels in kidney dysfunction including stage 5 D and T: a systematic review

Renal Replacement Therapy, 2020
Background/aims Familial juvenile hereditary nephropathy (FJHN) is characterized by hyperuricemia due to severely impaired urinary excretion of urate. Hereditary renal hypouricemia is an inborn error of membrane transport.
Fateme Shamekhi Amiri, Zohreh Rostami
doaj   +1 more source

Neonatal diabetes mellitus is a significant feature of COXPD‐24 caused by recessive NARS2 variants

Diabetic Medicine, Volume 42, Issue 11, November 2025.
Abstract Background Recessive loss‐of‐function NARS2 variants causing the multi‐system disorder Combined oxidative phosphorylation deficiency 24 (COXPD24) have recently been reported in 3 individuals with diabetes diagnosed between 3 days and 14 months of age. In this study, we investigate the presence of NARS2 variants in a large cohort of individuals
Russell Donis, Matthew N. Wakeling, Nicola Jeffery, Molly Govier, Matthew B. Johnson, Samar Sabir Hassan, Mohammed Ahmed Abdullah, Khadiga Yehia Elsayed Eltonbary, Nima Parvaneh, Mahsa M. Amoli, Farzaneh Abbasi, Selin Elmaoğulları, Semra Çetinkaya, Kubra Gunes, Meltem Tayfun, Hanieh Yaghootkar, Andrew T. Hattersley, Sarah E. Flanagan, Elisa De Franco   +18 more
wiley   +1 more source

WONOEP XVII appraisal: Targeting network excitability beyond the synapse ‐Neurotransmitter, ionic, and electro ‐diffusions

Epilepsia, Volume 66, Issue 11, Page 4139-4161, November 2025.
Abstract Epilepsy affects approximately 1% of the population worldwide, and although medications are effective in the majority of cases, seizures persist in approximately 30% of patients. Despite the effort to develop new antiseizure drugs, the rate of pharmacoresistance in patients has not diminished over the past 3 decades. There is thus a real unmet
Vincent Magloire, Marco de Curtis, Jeffrey Noebels, Gilles Huberfeld, Piotr Suffczynski, Vadym Gnatkovsky, Olga Tyurikova, Dominique Durand, David C. Henshall, Cian McCafferty   +9 more
wiley   +1 more source

Relapsing and difficult to control hypokalemia in a patient with acute lymphoid leukemia

Iatreia, 2015
Hypokalemia is an electrolytic disorder, in some occasions difficult to control. When severe, it may be life-threatening. We report the case of a patient with relapse of acute lymphoid leukemia, who presented to the hospital with flaccid paralysis ...
Nieto-Ríos, John Fredy, Serna-Higuita, Lina María, Valencia-Chicué, Libardo Humberto, Ocampo-Kohn, Catalina , Aristizábal-Alzate, Arbey, Zuluaga-Valencia, Gustavo Adolfo   +5 more
doaj   +1 more source

Diagnostic Strategies to Identify Patients with Genetic Salt-Losing Tubulopathies [PDF]

, 2021
Elizabeth R Wan, Daniela Iancu, Emma Ashton, Keith Siew, Barian Mohidin, Chih‐Chien Sung, China Nagano, Detlef Böckenhauer, Shih‐Hua Lin, Kandai Nozu, Stephen B Walsh   +10 more
openalex   +1 more source