Results 61 to 70 of about 2,424,136 (181)
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
PLoS ONE, 2017 Introduction Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb.
Alejandro García Castaño +17 more
semanticscholar +1 more source
Management of isolated abnormal amniotic fluid volume in pregnancy
The Obstetrician &Gynaecologist, Volume 28, Issue 1, Page 41-50, January 2026.Key content Amniotic fluid volume (AFV) is a vital measurement in the determination of fetal well‐being by means of ultrasound. There are many factors that determine AFV and, in many cases, complications affecting the fetus may manifest through change in its value.
Abigail O. Falola +3 more
wiley +1 more source
Adult presentation of Bartter syndrome type IV with erythrocytosis
Einstein (São Paulo)Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the ...
Ita Pfeferman Heilberg +2 more
doaj +1 more source
Bartter syndrome: An infrequent tubulopathy of prenatal onset.
Revista chilena de pediatría, 2019 INTRODUCTION Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic ...
Carmen Luz Gómez de la F +2 more
semanticscholar +1 more source
Case Reports in Genetics, Volume 2026, Issue 1, 2026.Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers +3 more
wiley +1 more source
Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation
Clinical Case Reports, Volume 13, Issue 12, December 2025.ABSTRACT Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) is a rare tubulopathy resulting from mutations in the CLDN16 and CLDN19 genes. The affected individuals commonly present with polyuria, polydipsia, excessive urinary magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, nephrolithiasis, recurrent urinary tract ...
Abdullah Al Noman Bhuiyan +4 more
wiley +1 more source
Mutation spectrum of Chinese patients with Bartter syndrome
OncoTarget, 2017 Objective Bartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and ...
Yue Han +5 more
semanticscholar +1 more source
Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7‐Year‐Old Girl: A Case Report
Clinical Case Reports, Volume 13, Issue 12, December 2025.ABSTRACT Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive renal tubular disorder, caused by mutations in the Claudin‐16 or Claudin‐19 genes. It is characterized by renal wasting of calcium and magnesium, bilateral nephrocalcinosis, and progression to kidney failure eventually.
Rummana Tazia Tonny +3 more
wiley +1 more source
Late-onset Bartter syndrome type II
Clinical Kidney Journal, 2017 Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who ...
Benjamin Gollasch +3 more
semanticscholar +1 more source
A large‐scale evolutionary and structural analysis of CLC channels and transporters
Protein Science, Volume 34, Issue 12, December 2025.Abstract The CLC family of membrane proteins consists of chloride channels and anion/proton antiporters. How the same fold accommodates two distinct mechanisms remains poorly understood, and the small set of experimental structures provides limited insight.
Ayush Mishra +2 more
wiley +1 more source