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
Current management of non-amyloidosis monoclonal gammopathy of renal significance: Clinical features, treatment selections, responses and renal outcomes. [PDF]
Br J HaematolBritish Journal of Haematology, Volume 208, Issue 1, Page 329-332, January 2026.
Cancilla D +14 more
europepmc +2 more sources
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
Hereditary tubulopathies accompanying polyuia
Regulatory Mechanisms in Biosystems, 2021 Tubulopathies are a group of heterogeneous diseases that are manifested in the malfunction of the renal tubules. This review addresses tubulopathies associated with polyuria syndrome, namely renal glucosuria syndrome, nephrogenic diabetes insipidus and pseudohyperaldosteronism.
Ryznychuk, M.O. +3 more
openaire +4 more sources
Screening for an Underlying Tubulopathy in Children With Growth Failure, Simply Maths?
Frontiers in Pediatrics, 2022 BackgroundInvolving pediatric nephrological input in the clinical diagnostic work-up of children with short stature, gave rise to the hypothesis that the presence of an underlying renal tubular disorder in children with short stature is possibly ...
Caroline Becue +8 more
doaj +1 more source
Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation
European Journal of Case Reports in Internal Medicine, 2021 Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter.
Maria Clara Novais de Matos +6 more
doaj +1 more source
Waldenström Macroglobulinemia: Unusual Presentation With Cast Nephropathy/Light Chain Tubulopathy
Clinical Medicine Insights: Case Reports, 2019 Cast Nephropathy/Light chain tubulopathy is usually present in patients with multiple myeloma and is very rare in patients with Waldenstrom Macroglobulinemia. There are very few case reports mentioned in the literature.
Muddasir Ashraf, Prerna Rastogi
doaj +1 more source
Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy [PDF]
Pediatrics International, 2020 AbstractBartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively ...
Kandai Nozu +8 more
openaire +2 more sources
Urinary cystatin C as a marker of tubular dysfunction [PDF]
Journal of Medical Biochemistry, 2007 Cystatin C (CysC) is a nonglycosylated 13 KD protein that belongs to the type II cystatin gene family. It is a strong inhibitor of cysteine proteinases freely filtered by the kidney glomerulus and reabsorbed by the tubulus, where it is almost totally ...
Mijušković Zoran +6 more
doaj
Hyperaldosteronism in children and adolescents
Лечащий Врач, 2021 The review article considers current data on the etiology, pathogenesis, clinical picture, genetic diagnostics of hyperaldosteronism in children and adolescents. Phenotypic signs characteristic of this syndrome are described.
V. V. Smirnov, L. I. Bikbaeva
doaj +2 more sources