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1.
The challenges of diagnosis and management of Gitelman syndrome.
Urwin, S, Willows, J, Sayer, JA
Clinical endocrinology. 2020;(1):3-10
Abstract
Gitelman syndrome is an inherited tubulopathy characterized by renal salt wasting from the distal convoluted tubule. Defects in the sodium chloride cotransporter (encoded by SLC12A3) underlie this autosomal recessive condition. This article focuses on the specific challenges of diagnosing and treating Gitelman syndrome, with use of an illustrative case report. Symptoms relate to decreased serum potassium and magnesium levels, which include muscle weakness, tetany, fatigue and palpitations. Sudden cardiac deaths have been reported. Making a diagnosis may be difficult given its rarity but is important. A knowledge of the serum and urine biochemical picture is vital to distinguish it from a broad differential diagnosis, and application of genetic testing can resolve difficult cases. There is a group of Gitelman syndrome heterozygous carriers that experience symptoms and electrolyte disturbance and these patients should be managed in a similar way, though here genetic investigations become key in securing a difficult diagnosis. Potassium and magnesium replacement is the cornerstone of treatment, though practically this can be hard for patients to manage and often does not fully relieve symptoms even when serum levels are normalized. Challenges arise due to the lack of randomized controlled trials focussing on treatment of this rare disease; hence, clinicians endorse strategies in line with correction of the underlying pathophysiology such as sodium loading or pharmacological treatments, which seem to help some patients. Focussed dietary advice and knowing the best tolerated preparations of potassium and magnesium medications are useful tools for the physician, as well as an awareness of the specific burdens that this patient group face in order to signpost appropriate support.
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2.
Distal renal tubular acidosis and severe hypokalemia: a case report and review of the literature.
Vasquez-Rios, G, Westrich, DJ, Philip, I, Edwards, JC, Shieh, S
Journal of medical case reports. 2019;(1):103
Abstract
BACKGROUND Distal renal tubular acidosis is a relatively infrequent condition with complex pathophysiology that can present with life-threatening electrolyte abnormalities. CASE PRESENTATION We describe a case of a 57-year-old Caucasian woman with previous episodes of hypokalemia, severe muscle weakness, and fatigue. Upon further questioning, symptoms of dry eye and dry mouth became evident. Initial evaluation revealed hyperchloremic metabolic acidosis, severe hypokalemia, persistent alkaline urine, and a positive urinary anion gap, suggestive of distal renal tubular acidosis. Additional laboratory workup and renal biopsy led to the diagnosis of primary Sjögren's syndrome with associated acute tubulointerstitial nephritis. After potassium and bicarbonate supplementation, immunomodulatory therapy with hydroxychloroquine, azathioprine, and prednisone was started. Nonetheless, her renal function failed to improve and remained steady with an estimated glomerular filtration rate of 42 ml/min/1.73 m2. The literature on this topic was reviewed. CONCLUSIONS Cases of renal tubular acidosis should be carefully evaluated to prevent adverse complications, uncover a potentially treatable condition, and prevent the progression to chronic kidney disease. Repeated episodes of unexplained hypokalemia could be an important clue for diagnosis.
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3.
Physiology and Pathophysiology of Potassium Homeostasis: Core Curriculum 2019.
Palmer, BF, Clegg, DJ
American journal of kidney diseases : the official journal of the National Kidney Foundation. 2019;(5):682-695
Abstract
Total-body potassium (K+) content and appropriate distribution of K+ across the cell membrane is vitally important for normal cellular function. Total-body K+ content is determined by changes in excretion of K+ by the kidneys in response to intake levels. Under normal conditions, insulin and β-adrenergic tone also make important contributions in maintaining internal distribution of K+. However, despite these homeostatic pathways, disorders of altered K+ homeostasis are common. Appreciating the pathophysiology and regulatory influences that determine the internal distribution and external balance of K+ is critical in designing effective treatments to restore K+ homeostasis. We provide an up-to-date review of the regulatory aspects of normal K+ physiology as a preface to highlighting common disorders in K+ homeostasis and their treatment. This review of K+ homeostasis is designed as a resource for clinicians and a tool for educators who are teaching trainees to understand the pivotal factors involved in K+ balance.
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4.
[Not Available].
Lüthi, L, Kistler, A, Nowak, A
Praxis. 2017;(11):561-570
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5.
Refeeding syndrome in cancer patients.
Marinella, MA
International journal of clinical practice. 2008;(3):460-5
Abstract
BACKGROUND Refeeding syndrome (RFS) is a common, yet underappreciated, constellation of electrolyte derangements that typically occurs in acutely ill, malnourished hospitalised patients who are administered glucose solutions or other forms of intravenous or enteral nutrition. DISCUSSION The hallmark of RFS is hypophosphataemia, but hypokalaemia and hypomagnesaemia are also common. Patients with various types of malignancies are at-risk for RFS, but very little exists in the oncologic literature about this disorder. CONCLUSIONS As RFS can have many adverse metabolic, cardiovascular, haematologic and neurologic complications, practicing oncologist needs to be aware of the pathophysiology, risk factors and clinical manifestations to promptly recognise this important, and potentially fatal, metabolic disorder.
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6.
Type 2 pseudohypoaldosteronism: new insights into renal potassium, sodium, and chloride handling.
Proctor, G, Linas, S
American journal of kidney diseases : the official journal of the National Kidney Foundation. 2006;(4):674-93
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7.
Primary hyperaldosteronism with normokalaemia secondary to an adrenal adenoma (Conn's syndrome) in a 12 year-old boy.
Abdullah, N, Khawaja, K, Hale, J, Barrett, AM, Cheetham, TD
Journal of pediatric endocrinology & metabolism : JPEM. 2005;(2):215-9
Abstract
A 12-1/2 year-old boy presented to the Accident Department following an episode of dizziness and was found to be hypertensive. Investigations revealed primary hyperaldosteronism secondary to an adrenal adenoma (Conn's syndrome). He had normal electrolytes during the period of investigation and potassium concentrations were > or = 4.2 mmol/l on all but one occasion. The hypertension resolved following excision of the adrenal tumour. Normokalaemia with potassium >4.0 mmol/l is very unusual in patients with Conn's syndrome and has not been described in childhood before. Primary hyperaldosteronism needs to be considered in hypertensive children even when potassium concentrations are well within the laboratory reference range.
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8.
A patient with sodium- and potassium-losing nephropathy.
Fulop, M
The American journal of the medical sciences. 2003;(2):93-7
Abstract
A young man with salt-losing nephropathy had the unusual coexistence of hypokalemia caused by secondary hyperaldosteronism. When his NaCl intake was supplemented by 12 g/day (205 mmol), hyperaldosteronism was suppressed and so were his urinary K wasting, hypokalemia, and episodic falling, during an extended follow-up. His findings are compared and contrasted with those in other reported patients with renal salt wasting, and also those in patients with Gitelman and Bartter syndromes.
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9.
[Thyreotoxic hypokalemic paralysis; presentation of symptoms in three case reports].
Hahn, S, Rudorff, KH, Saller, B, Mann, K
Der Internist. 2001;(5):748-55