Molecular basis, diagnostic challenges and therapeutic approaches of bartter and gitelman syndromes: a primer for clinicians

L Nuñez-Gonzalez, N Carrera… - International Journal of …, 2021 - mdpi.com
Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of
renal tubulopathies. The genes associated with these pathologies encode electrolyte …

Nephrogenic diabetes insipidus: a comprehensive overview

PAS Vaz de Castro, L Bitencourt… - Journal of Pediatric …, 2022 - degruyter.com
Nephrogenic diabetes insipidus (NDI) is characterized by the inability to concentrate urine
that results in polyuria and polydipsia, despite having normal or elevated plasma …

Genetic basis of nephrogenic diabetes insipidus

M Hureaux, R Vargas-Poussou - Molecular and Cellular Endocrinology, 2023 - Elsevier
Nephrogenic diabetes insipidus is defined as an inability to concentrate urine due to a
complete or partial alteration of the renal tubular response to arginine vasopressin hormone …

Treatment and long-term outcome in primary nephrogenic diabetes insipidus

SC Lopez-Garcia, ML Downie, JS Kim… - Nephrology Dialysis …, 2023 - academic.oup.com
Background Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is
known about treatment practices and long-term outcome. Methods Paediatric and adult …

Is mild dehydration a risk for progression of childhood chronic kidney disease?

AK Le Page, EC Johnson, JH Greenberg - Pediatric Nephrology, 2024 - Springer
Children with chronic kidney disease (CKD) can have an inherent vulnerability to
dehydration. Younger children are unable to freely access water, and CKD aetiology and …

Vasopressin-Dependent Disorders: What Is New in Children?

JE Driano, AN Lteif, AL Creo - Pediatrics, 2021 - publications.aap.org
Arginine vasopressin (AVP)–mediated osmoregulatory disorders, such as diabetes insipidus
(DI) and syndrome of inappropriate secretion of antidiuretic hormone (SIADH) are common …

Nephrogenic diabetes insipidus in children

C Duicu, AM Pitea, OM Săsăran… - Experimental and …, 2021 - spandidos-publications.com
Nephrogenic diabetes insipidus (NDI) is characterized by impaired urinary concentrating
ability, despite normal or elevated plasma concentrations of the antidiuretic hormone …

The usefulness of copeptin for the diagnosis of nephrogenic diabetes insipidus in infancy: a case report

L Bitencourt, BL Fischer… - Journal of Pediatric …, 2021 - degruyter.com
Objectives We report a case of an infant with nephrogenic diabetes insipidus (NDI)
diagnosed by the measurement of serum copeptin. There is only one study that previously …

Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus

S Selvaraj, D Rodrigues, N Krishnamoorthy… - Journal of Personalized …, 2022 - mdpi.com
Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal
unresponsiveness to the hormone vasopressin, leading to excretion of large volumes of …

Congenital nephrogenic diabetes insipidus treated with acetazolamide

W Du Plessis, MY Chothia - Nephrology, 2024 - Wiley Online Library
Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder. The condition is
characterised by an inability of distal nephron segments to respond to normal or raised …