Schizophrenia-like psychosis and gitelman syndrome: a case report and literature review

Abstract

IntroductionGitelman syndrome(GS) is a rare inherited tubular disorder which is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Here, we report a case of schizophrenia-like psychosis concomitant with GS and related literatures are reviewed.Case descriptionAn 18-year-old male patient with 1-week history of auditory hallucinations, sense of insecurity, delusions of reference and feelings of being followed and controlled by others unknown, insomnia was admitted to Psychiatry department in December, 2013. Hypokalemia and hypomagnesemia were noted. He was diagnosed as schizophrenia-like psychosis. Treatment with paliperidone at the dose of 6 mg/day and magnesium and potassium supplementations was commenced. However, electrolyte disturbances failed to improve following psychosis remission. Therefore, other underlying diseases resulting in electrolyte disturbances were suspected. Along with hypokalemia and hypomagnesemia, additional investigation showing metabolic alkalosis, hypocalciuria, renal loss of potassium, were consistent with GS. Gene analysis revealed this patient carried out c. 2687 G > A homozygous mutation of exon 23 in the SLC12A3 gene which led to p.Arg896Gln. Eventually, GS was identified. Thus, additional spironolactone (40 mg/day) combined with increased doses of oral potassium chloride sustained-release tablets (3.0 g/day) and potassium magnesium aspartate (0.3 g/day) were administered. During next half a year, fatigue resolved, paliperidone gradually tapered and eventually discontinued while psychosis maintained complete remission. His serum potassium was near normal (3.2–3.5 mmol/L), hypomagnesemia significantly improved (0.57–0.67 mmol/L).Discussion and evaluationElectrolyte abnormalities secondary to GS might cause or contribute to development of neuropsychiatric symptoms. In turn, hypokalemia was common among acute psychiatric inpatients. As a consequence, when concomitant with psychosis, GS was readily concealed.Conclusion Electrolyte disturbances are common in acute psychiatric patients. However, when electrolyte disturbances are not improved following psychosis remission, other underlying diseases such as GS should be considered.

Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome

“…Because of similar clinical manifestations, GS is considered a subtype of Bartter Syndrome having hypomagnesemia and hypocalciuria. A few years ago, the molecular basis of GS was revealed by Simon et al They first demonstrated a linkage of GS to the locals encoding the renal NCC, an integral membrane protein consisting of 1030 amino acids with 12 transmembrane and intercellular N and C-terminal domains [8,25]. Thereafter, a series of studies identified the human SLC12A3 gene, which encodes the NCC.…”

Early onset children’s Gitelman syndrome with severe hypokalaemia: a case report

“…These included 3 articles in China (sample size is 67, 47, 20 people); 1 article in Switzerland [ 5 ] (163 people), 1 in the UK [ 6 ] (36 people), and 1 in South Korea [ 7 ] (34 people). The remainders of the relevant research were mainly case reports reflecting the complications reported, such as combined Sjogren’s syndrome [ 8 ], combined pregnancy or pregnancy HELLP syndrome [ 9 ], primary hyperparathyroidism [ 10 ], complete growth hormone deficiency [ 11 ], schizophrenic changes [ 12 ], and Fanconi syndrome [ 13 ]. Hypokalaemia is a common significant feature among them.…”

A causality dilemma: ARFID, malnutrition, psychosis, and hypomagnesemia

“…A literature search found a single case report of a patient with schizophrenia and Gitelman syndrome and a single case report of a patient with a purging eating disorder and Gitelman syndrome, demonstrating the rarity of these co‐occurrences (Pan, Mou, Li, Liu, & Hu, ; Lee, Lee, & Han, ). To our knowledge, this is the first reported case of a single patient with a co‐occurring eating disorder, psychosis, and Gitelman syndrome.…”