title: Relative hypoaldosteronism in a patient with Wolcott-Rallison syndrome.
abstract: BACKGROUND
  Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy.
  
  
  METHODS
  A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 μg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels.
  
  
  CONCLUSIONS
  This is the first case report of Wolcott-Rallison syndrome complicated with relative hypoaldosteronism. Further research is needed to probe the causal inference of relative hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome.
authors.affiliation: Department of Pediatric Endocrinology and Diabetes, Şişli Etfal Training and Research Hospital, Istanbul, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Uçar
authors.affiliation: Department of Pediatric Gastroenterology, Hepatology and Nutrition, Children's State Hospital of Sanliurfa, Sanliurfa, Turkey.
authors.forename: Y
authors.initials: Y
authors.lastname: Aydemir
authors.affiliation: Intensive Care Unit, Children's State Hospital of Sanliurfa, Sanliurfa, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Doğan
authors.affiliation: Department of Genetics, Children's State Hospital of Sanliurfa, Sanliurfa, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Tunçez
mesh_terms: D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy; D016883:Diabetic Ketoacidosis / Q000150:complications / Q000000981:diagnostic imaging; D004838:Epiphyses / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005438:Fludrocortisone / Q000627:therapeutic use; D006801:Humans; D006994:Hypoaldosteronism / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology*; D009102:Multiple Organ Failure / Q000150:complications / Q000000981:diagnostic imaging; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy
chemical_list: D005438:Fludrocortisone