Amyloid proximal tubulopathy: a novel form of light chain proximal tubulopathy [PDF]
Clinical Kidney Journal, 2012 Light chain proximal tubulopathy is a paraproteinemic-related kidney disease most commonly seen in patients with a plasma cell dyscrasia. The classic description is that of proximal tubules with kappa-restricted intracytoplasmic crystals in a patient with a clinical Fanconi's syndrome.
Larsen, Christopher P. +2 more
openaire +2 more sources
Osmotic Tubulopathy and Acute Thrombotic Microangiopathy in a Kidney Transplant Recipient With a Breakthrough SARS-CoV-2 Infection [PDF]
, 2022 Acute kidney injury is a known complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection for which many different pathophysiological processes have been reported.
Zuckerman, Jonathan E. +9 more
core +1 more source
Inherited Tubulopathies of the Kidney [PDF]
Clinical Journal of the American Society of Nephrology, 2020 The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes.
Mallory L. Downie +3 more
openaire +3 more sources
Hereditary tyrosinemia type 1 in an infant with multiple congenital defects
Лечащий Врач, 2023 Hereditary tyrosinemia type 1 or hepatorenal tyrosinemia is a severe orphan autosomal-recessive disorder of tyrosine metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).
H. A. Sarkisyan +10 more
doaj +1 more source
Hypoaldosteronism syndrome in children and adolescents
Лечащий Врач, 2021 The review article describes the current data on the etiology, pathogenesis, clinical features, genetic diagnosis, and treatment tactics for hypoaldosteronism in children and adolescents. Phenotypic signs typical for this syndrome are described.
V. V. Smirnov, A. E. Saparova
doaj +1 more source
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. [PDF]
, 2013 Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene.
Ramesh, V +56 more
core +1 more source
Obesity-related proximal tubulopathy: an emerging threat to kidney health
, 2023 Our previous studies have demonstrated that lipid overload leads to lysosomal dysfunction and autophagic stagnation in kidney proximal tubular epithelial cells (PTECs), which contributes to the renal lipotoxicity and eventually leading to the development
Yoshitsugu Takabatake +3 more
core +1 more source
Light chain proximal tubulopathy [PDF]
Kidney International, 2009 CASE PRESENTATIONA 55-year-old Caucasian woman presented to her primary care physician with complaints of progressive fatigue for several months, dyspnea with minimal exertion, loss of appetite, 15-pound weight loss, and recurrent low-grade fevers. Past medical history was significant only for migraine headaches.
Herlitz, Leal C. +4 more
openaire +2 more sources
mTOR-Activating Mutations in Are Causative for Kidney Tubulopathy and Cardiomyopathy
, 2021 Background: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling.
Ibars Serra, Maria +35 more
core +1 more source
Diabetic proximal tubulopathy: Can we mimic the disease for in vitro screening of SGLT inhibitors? [PDF]
, 2021 Diabetic kidney disease (DKD) is the foremost cause of renal failure. While the glomeruli are severely affected in the course of the disease, the main determinant for disease progression is the tubulointerstitial compartment.
Gerritsen, Karin +20 more
core +1 more source