Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism
Branchio-oto-renal (BOR) syndrome is an autosomal dominant, clinically heterogeneous disorder characterized by branchial arch anomalies, hearing impairment, and renal malformations.
Jane Jackie David, Preeti Shanbag
doaj +2 more sources
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report [PDF]
Background X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1.
Lorenzo Iughetti +7 more
doaj +3 more sources
Long-lasting hypoaldosteronism after adrenalectomy in a cat with hyperaldosteronism [PDF]
Case summary A 10-year-old neutered male domestic shorthair cat was presented with an abdominal mass, associated renal failure, chronic vomiting, anorexia and progressive polyuria/polydipsia lasting for 3 weeks.
Léa Bouccara +4 more
doaj +2 more sources
Underestimated reason of hyperkalemia in diabetic patients: type IV renal tubular acidosis- mini review [PDF]
Diabetes mellitus is chronic disease with increasing prevalence, and may cause many organ complications, including kidneys. Reduced creatinine clearance and kidney failure are important, but hyperkalemia may be present in diabetic patients even before ...
Sibel Ertek, Kayser Caglar
doaj +2 more sources
Transient secondary pseudo-hypoaldosteronism in infants with urinary tract infections: systematic literature review. [PDF]
Infants with a congenital anomaly of the kidney and urinary tract sometimes present with hyponatremia, hyperkalemia, and metabolic acidosis due to under-responsiveness to aldosterone, hereafter referred to as secondary pseudo-hypoaldosteronism.
Betti C +7 more
europepmc +5 more sources
A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism [PDF]
Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and
Lama Alfaraidi +4 more
doaj +2 more sources
The Role of Aldosterone in Detecting Resistance-Driven Hypoaldosteronism and Deficit-Driven Hypoaldosteronism. [PDF]
Ruiz-Sánchez JG +5 more
europepmc +3 more sources
Hyponatremia in babies: a 11-year single-center study [PDF]
IntroductionHyponatremia is one of the most prevalent water-electrolyte disturbances encountered in clinical practice in pediatrics and can arise from various conditions. However, there are limited reports on hyponatremia in hospitalized infants.
Xu Liu +4 more
doaj +2 more sources
SAT-281 Double Trouble: Phentermine and Fludrocortisone Toxicity Causing Recurrent Syncope in a Patient with Obesity and Hyporeninemic Hypoaldosteronism [PDF]
A.C. Jain, Jennifer Cheng
europepmc +3 more sources

