Markers of potassium homeostasis in salt losing tubulopathies- associations with hyperaldosteronism and hypomagnesemia.

BACKGROUND: Renal loss of potassium (K+) and magnesium (Mg2+) in salt losing tubulopathies (SLT) leads to significantly reduced Quality of Life (QoL) and higher risks of cardiac arrhythmia. The normalization of K+ is currently the most widely accepted treatment target, however in even excellently designed RCTs the increase of K+ was only mild and rarely normalized. These findings question the role of K+ as the ideal marker of potassium homeostasis in SLT. Aim of this hypothesis-generating study was to define surrogate endpoints for future treatment trials in SLT in terms of their usefulness to determine QoL and important clinical outcomes. METHODS: Within this prospective cross-sectional study including 11 patients with SLTs we assessed the biochemical, clinical and cardiological parameters and their relationship with QoL (RAND SF-36). The primary hypothesis was that QoL would be more dependent of higher aldosterone concentration, assessed by the transtubular-potassium-gradient (TTKG). Correlations were evaluated using Pearson's correlation coefficient. RESULTS: Included patients were mainly female (82%, mean age 34 ± 12 years). Serum K+ and Mg2+ was 3.3 ± 0.6 mmol/l and 0.7 ± 0.1 mmol/l (mean ± SD). TTKG was 9.5/3.4-20.2 (median/range). While dimensions of mental health mostly correlated with serum Mg2+ (r = 0.68, p = 0.04) and K+ (r = 0.55, p = 0.08), better physical health was associated with lower aldosterone levels (r = -0.61, p = 0.06). TTKG was neither associated with aldosterone levels nor with QoL parameters. No relevant abnormalities were observed in neither 24 h-ECG nor echocardiography. CONCLUSIONS: Hyperaldosteronism, K+ and Mg2+ were the most important parameters of QoL. TTKG was no suitable marker for hyperaldosteronism or QoL. Future confirmatory studies in SLT should assess QoL as well as aldosterone, K+ and Mg2+.

A Case of Gitelman Syndrome Diagnosed with Anorexia Nervosa in a Psychiatry Clinic. / Psikiyatri Kliniginde Tani Konulan Anoreksiya Nervoza Görünümlü Gitelman Sendromu.

Anorexia nervosa is a disorder that is characterized by excessive preoccupation with body weight and shape, and conscious attempts to stay in low weight due to fear of weight gain. Vomiting, one of the METHODS used by anorexia nervosa patients to stay in low weight, is one of the most important causes of hypokalemia. Diuretics and diarrhea are other common causes of hypokalemia. If hypokalemia is chronic and resistant to treatment, eating disorders and other metabolic conditions should be investigated. One of the rare causes of hypokalemia, an electrolyte imbalance that can cause fatal outcomes, is Gitelman syndrome. Gitelman Syndrome is a genetically inherited disease of the distal tubules which causes hypokalemia, metabolic alkalosis, hypocalcemia, hypomagnesemia and vomiting. It is a syndrome usually diagnosed during adolescence, however it sometimes remains asymptomatic throughout life. Severe symptoms such as tetanus, rhabdomyolysis, and paralysis can also be seen. A case of Gitelman syndrome which was diagnosed as anorexia nervosa due to physical appearance of the patient, low body mass index (BMI), and frequent vomiting and in which the other medical pathologies have not been adequately investigated is presented in this article. Assessments to exclude the medical conditions that may be associated with symptoms are necessary before a diagnosis of a psychiatric disorder is made.

[Chronic pain and artificial diseases]. / Chronischer Schmerz und artifizielle Erkrankungen.

A 34-year-old woman presented with a complex pain disorder and a previous diagnosis of the rare Gitelman syndrome but with a negative genetic test. The patient was admitted to a routine ward for treatment of the pain but was transferred to the intensive care unit after suffering severe hypokalemia and a narcoleptic attack. In the period of intensive care all blood parameters were stable but on release to the normal ward severe hypokalemia immediately reoccurred. With consent the patient's belongings were inspected and many diuretics and laxatives were found. The patient admitted to uncontrolled self-medication so that the diagnosis of Gitelman syndrome also appeared to be an artificial disorder.

Living with Gitelman disease: an insight into patients' daily experiences.

BACKGROUND: Gitelman disease presents with musculoskeletal complaints and fatigue. Surprisingly, there is no clear-cut correlation between biochemical abnormalities and symptoms. METHODS: Starting from the hypothesis that the way patients comprehend their illness within their sociocultural frameworks reflects on their way of adapting to it, this study investigated how adult patients experience the disease in everyday life. We conducted a qualitative analysis based on interviews with 12 patients. Interviews were audio recorded, fully transcribed and analyzed using the constant comparative method described by Strauss and Corbin. RESULTS: A typology of the experiences emerged from the data and was tested on each transcript with an explicit search for disconfirming cases. Patients fell into four main groups: (i) those considering Gitelman disease a disabling illness, (ii) those considering it a normalized illness, (iii) those considering it a different normality and (iv) those considering it an episodic disability. Each pattern of experience was characterized by particular (i) ways of interpreting symptoms (ii) ways of managing Gitelman disease in everyday life, (iii) general lifestyles and (iv) risks for the patient's psychosocial life. CONCLUSIONS: These findings suggest that health care providers should take advantage of considering patients' own perception of the disease in order to adjust the care and advice provided.