Pseudohypoaldosteronism type II (PHA II) or Gordon syndrome is characterized by hyperkalemia, hypertension, hyperchloremic metabolic acidosis, low plasma renin activity, and normal kidney function. We report a rare case of a young adult female patient presenting with abdominal pain, diarrhea, and vomiting. She was hypertensive during the presentation. Blood work showed mild anemia, hyperkalemia, hyperchloremia, and metabolic acidosis, with normal renal function and liver function. Plasma renin activity and aldosterone levels were low-normal. These findings were suggestive of PHA II or Gordon syndrome. It is a rare familial disease, with a non-specific presentation and no specific diagnostic criteria, and physicians should suspect it in patients with hyperkalemia in the setting of normal glomerular filtration, along with hypertension (which can be absent), metabolic acidosis, hyperchloremia, low plasma renin activity, and relatively suppressed aldosterone.
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http://dx.doi.org/10.7759/cureus.52594 | DOI Listing |
Am J Hypertens
January 2025
Department of Medicine, College of Medicine, Northeast Ohio Medical University, Rootstown, OH, USA.
Hypertension is a growing concern worldwide, with increasing prevalence rates in both children and adults. Most cases of hypertension are multifactorial, with various genetic, environmental, socioeconomic, and lifestyle influences. However, monogenic hypertension, a blanket term for a group of rare of hypertensive disorders, is caused by single-gene mutations that are typically inherited in an autosomal dominant fashion, and ultimately disrupt normal blood pressure regulation in the kidney or adrenal gland.
View Article and Find Full Text PDFCureus
October 2024
Osteopathic Medicine, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Clearwater, USA.
Gordon syndrome (GS), also known as distal arthrogryposis type 3, is a rare congenital disorder characterized by debilitating multisystem defects and for which there is currently no cure. In the absence of a definitive treatment, multimodal symptomatic approaches are employed to enhance quality of life. The case presented involves a 40-year-old female with GS who exhibited multiple chronic, widespread, and severe musculoskeletal ailments that limited her daily functional capacity.
View Article and Find Full Text PDFHeliyon
November 2024
Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog (JPARC) - Lille Neuroscience and Cognition, F-59000, Lille, France.
Pseudohypoaldosteronism type II is a rare Mendelian disorder characterized by hypertension, hyperkalemia, hyperchloremia and metabolic acidosis, despite a normal glomerular filtration rate. Four genes (, , and ) are associated with this disease. Mutations in the gene cause pseudohypoaldosteronism type II in either an autosomal dominant or a recessive inheritance pattern.
View Article and Find Full Text PDFPediatr Nephrol
November 2024
Department of Pediatric Nephrology, University Hospital and Catholic University Leuven, Herestraat 49, 3000, Leuven, Belgium.
Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited condition of altered tubular salt handling. It is characterized by the specific constellation of hyperkalaemic hyporeninemic hypertension, hyperchloremic metabolic acidosis and hypercalciuria. Molecular genetic testing confirms the diagnosis in the majority of cases.
View Article and Find Full Text PDFFront Genet
September 2024
Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: The Ankyrin Repeat Domain Containing Protein 17 (, OMIM:615929) gene is a protein-coding gene associated with diseases such as Chopra-Amiel-Gordon Syndrome and Non-Specific Syndromic Intellectual Disability. The protein encoded by gene belongs to the ankyrin repeat-containing protein family, which is one of the most widely existing protein domains that exclusively mediate protein-protein interactions. To date, the research and reports on the gene are limited.
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