Results 101 to 110 of about 6,399 (205)

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

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

Although myeloid‐cell RGS2 knockout does not affect Ang II–induced hypertension/organ damage in mice, high RGS2 in Gitelman/Bartter syndromes—human models of endogenous Ang II signaling antagonism—is associated with hypotensive/antiremodeling effects

Physiological Reports, Volume 14, Issue 18, September 2026.
Lorenzo A. Calò, Martina Cacciapuoti, Paul A. Davis   +2 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

Three‐Dimensionally Bioprinted Renal Organoids‐on‐a‐Chip for Personalized Prediction of Cyclosporine Nephrotoxicity in Rare Genetic Tubulopathies

VIEW Medicine, Volume 1, Issue 1, November 2026.
Noor Ur Rehman Hassan, Bisma Tariq, Iman Sharif, Jamshid Arify, Muhammad Zeeshan Ghani   +4 more
wiley   +1 more source

PGC1α Activators Mitigate Diabetic Tubulopathy by Improving Mitochondrial Dynamics and Quality Control [PDF]

, 2017
Purpose. In this study, we investigated the effect of PGC1α activators on mitochondrial fusion, fission, and autophagic quality control in renal tubular cells in a diabetic environment in vivo and in vitro.
So-Young Lee, Yu Ho Lee, Dong Ho Yang, Sang Ho Lee, Seon Hwa Park, Dong-Jin Kim, Jun Mo Kang, Hye Yun Jeong, Yang Gyun Kim   +8 more
core   +1 more source

Additional file 2 of Prevalence of inherited changes of uric acid levels in kidney dysfunction including stage 5 D and T: a systematic review

, 2020
Additional file 2: Table S2.
Zohreh Rostami (8424318), Fateme Shamekhi Amiri (8424315)   +1 more
core   +1 more source

Crystalline podocytopathy and tubulopathy without overt glomerular proteinuria in a patient with multiple myeloma

, 2016
Crystalline nephropathy is a rare yet well-known condition associated with multiple myeloma and other light chain–secreting disorders. Paraproteins that are resistant to proteolysis crystallize within proximal tubular cells and cause light-chain proximal
Eun Jeong Lee, Jung Eun Lee, Yonjin Kim, Ji Hyeon Park, Ghee Young Kwon, So Young Park, Jae Shin Choi, Yoon-Goo Kim, Su Yeon Lee, Mi Jeoung Kim   +9 more
core   +1 more source

Prevention of cardiac arrhythmias in pediatric patients with normotensive-hypokalemic tubulopathy: Current attitude among European pediatricians [PDF]

, 2018
Potassium deficiency predisposes to cardiac arrhythmias culminating in syncope or sudden death. Because of the uncertainty related to the possible occurrence of such cardiac arrhythmias in the context of normotensive-hypokalemic tubulopathies, 19 ...
Foglia, Pietro, Bettinelli, Alberto, Bianchetti, Mario, Cortesi, Cinzia   +3 more
core  

Severe renal tubulopathy in a newborn due to BCS1L gene mutation: Effects of different treatment modalities on the clinical course

, 2013
Very early onset Toni-Debre-Fanconi Syndrome, a disorder of proximal renal tubules of the kidney which results in the increased urinary excretion of glucose, amino acids, uric acid, phosphate and bicarbonate, could be the manifestation of various inborn ...
Turner, Leyla, BAKKALOĞLU EZGÜ, SEVCAN AZİME, Gunduz, Mehmet, Ezgu, FATİH SÜHEYL, Tiras, Ulku, Unsal, Rukiye, Hasanoglu, Alev, Senaca, Sara   +7 more
core   +1 more source