ReviewThe American journal of case reports2020
Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
Review in The American journal of case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 13 citations in OpenAlex.
- Complexities of Bartter Syndrome Type III: A Case Study in Jordan.Oxford medical case reports · 2025Article
- A case of adult-onset Bartter syndrome with transient paraplegia.Oxford medical case reports · 2025Article
- Paradoxical Hyperkalemia in Bartter Syndrome: A Case Report of Severe Resistant Hyperkalemia Requiring Hemodialysis.Case reports in nephrology · 2025Article
- Successful kidney transplantation in a patient with late-onset type II Bartter syndrome: A rare case report.Clinical nephrology. Case studies · 2025Article
- Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship - a case report.BMC pediatrics · 2024Article
- Renal Hypokalemia: An Endocrine Perspective.The Journal of clinical endocrinology and metabolism · 2024Review
- Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygousClinical case reports · 2022Article
- Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation inFrontiers in medicine · 2022Article
- Antenatal Bartter syndrome: a new compound heterozygous mutation in exon 2 of KCNJ1 gene.BMJ case reports · 2021Article
- Association of Adult-Onset Bartter Syndrome With Undifferentiated Connective Tissue Disorder.Cureus · 2021Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
BACKGROUND Bartter syndrome is a rare genetic disease characterized by hypokalemia, metabolic alkalosis, and hyperreninemic hyperaldosteronism. Five different subtypes have been described based on the genetic defect identified. Bartter syndrome type II is caused by homozygous or compound heterozygous loss-of-function mutations in the KCNJ1 gene encoding ROMK. This subtype is typically described as a severe antenatal form of the disease, often presenting with polyhydramnios before childbirth. CASE REPORT Here, we describe the case of a 26-year-old man who presented with generalized body weakness and hypokalemia and was ultimately diagnosed with Bartter syndrome type II based on his clinical features coupled with the identification of a homozygous missense mutation in KCNJ1. CONCLUSIONS To the best of our knowledge, this is the fifth case of late-onset Bartter syndrome type II. Interestingly, the mutation identified in our patient has been previously described in patients with antenatal Bartter's Syndrome. The late presentation in our patient suggests a surprising degree of phenotypic variability, even in patients carrying the identical disease-causing mutation.
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