Results 81 to 90 of about 2,061,243 (253)

Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]

, 2017
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
core   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng, Wei‐Qian Wang, Sha‐Sha Huang, Min Liu, Su‐Yan Yang, Dong‐Yang Kang, Xiang Wang, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu   +9 more
wiley   +1 more source

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

Xiehe Yixue Zazhi, 2023
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, National Rare Diseases Committee, Beijing Rare Disease Diagnosis, Treatment and Protection Society   +4 more
doaj   +1 more source

Midterm Outcome of AB0 Incompatible Kidney Transplantation in Children and Adolescents—A Single Center Experience

Pediatric Transplantation, Volume 30, Issue 1, January 2026.
AB0‐incompatible kidney transplantation in children can be performed with excellent results. Midterm outcome of AB0 incompatible KTx was not inferior to that of AB0 compatible KTx. Graft survival and graft function were comparably good in both groups. There was no increase in infectious complications or malignancies with AB0i KTx.
Christina Taylan, Sabine I. Mückenhausen, Lutz T. Weber, Dirk L. Stippel, Julia Thumfart   +4 more
wiley   +1 more source

Renovascular hypertension: a case with atypical neurological signs [PDF]

, 2015
Secondary hypertension is the most frequent form of hypertension in children. Renovascular disease accounts for 5-10% of all childhood hypertension and should be suspected in the presence of severe hypertension found difficult to manage with medical ...
Dionísio, T, Gomes, C, Jerónimo, M, Neves, JF   +3 more
core   +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, Lauren Filby, Paul Timmons, Djavid Alleemudder   +3 more
wiley   +1 more source

Genome mining yields putative disease-associated ROMK variants with distinct defects.

PLoS Genetics, 2023
Bartter syndrome is a group of rare genetic disorders that compromise kidney function by impairing electrolyte reabsorption. Left untreated, the resulting hyponatremia, hypokalemia, and dehydration can be fatal, and there is currently no cure.
Nga H Nguyen, Srikant Sarangi, Erin M McChesney, Shaohu Sheng, Jacob D Durrant, Aidan W Porter, Thomas R Kleyman, Zachary W Pitluk, Jeffrey L Brodsky   +8 more
doaj   +1 more source

Bartter Syndrome. A New Therapeutic Approach [PDF]

, 2011
A Síndrome de Bartter é uma tubulopatia hereditária perdedora de sal, rara (cerca de 1,2 novos casos por 100 000 nados vivos por ano1), caracterizada por alcalose metabólica, hipocaliémia, hiperreninémia e hiperaldosterolémia de gravidade variável.
Castro, I, Mendonça, M, Pinheiro, A
core  

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 [PDF]

, 2016
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney.
Abdelhadi, O, Bockenhauer, D, Iancu, D, Kleta, R, Stanescu, H   +4 more
core   +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, Nazia Akter, Tahniyah Haq, Md. Fariduddin, Shahjada Selim   +4 more
wiley   +1 more source