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Renal Disease
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Molly Wong Vega, Poyyapakkam Srivaths
In renal tubular acidosis, nutrition therapy may include similar nutrition therapies as seen in nephrolithiasis. Rare disorders like Bartter’s syndrome and Gitelman syndrome may require high amounts of electrolyte supplementation including that of sodium, chloride, potassium, and magnesium. In nephrogenic diabetes insipidus, nutrition therapy focuses on prevention of hypernatremia due to impaired water reabsorption in the kidney. Avoidance of excessive intake of solutes (primarily sodium and protein) that may increase water/urine excretion is important. Water supplementation via tube feedings is often necessary due to the high total fluid volumes (150–200 mL/kg per day) required to maintain adequate serum sodium levels. Growth can also be challenging as fluid intake may displace nutrient intake for oral feeders.
Fluid and electrolyte disorders
Published in Philip E. Harris, Pierre-Marc G. Bouloux, Endocrinology in Clinical Practice, 2014
Ploutarchos Tzoulis, Pierre-Marc G. Bouloux
Bartter and Gitelman syndromes have many clinical features in common, such as hypokalemic alkalosis, salt wasting, and normotension or hypotension despite elevated levels of plasma renin and aldosterone. Bartter and Gitelman syndromes can be distinguished based on laboratory parameters, including serum magnesium (Mg) and urinary Ca. All patients with Gitelman syndrome have hypomagnesemia, compared with 20%–30% of cases of Bartter syndrome. Gitelman syndrome is characterized by hypocalciuria in contrast to normocalciuria or hypercalciuria in Bartter syndrome. Interestingly, Bartter resembles the effects of loop diuretics and Gitelman the effects of thiazide diuretics.128
Hypomagnesemia and hypermagnesemia
Published in Acta Clinica Belgica, 2019
During the last decade, various etiologies of hereditary magnesium wasting have been described. In these monogenic and mostly very rare disorders, mutations in transporter proteins involved in magnesium handling are dysfunctional [1,15]. Overall, the presence of certain clinical features such as family history, dysmorphic appearance, presence of neurosensorial hearing loss, diabetes mellitus, mental retardation or cognitive dysfunction, epilepsy, early age of onset, presence of nephrocalcinosis and constellation of biochemical features such as hypercalciuria, metabolic alkalosis and hypokalemia can aid in differentiation of the underlying disease. Final diagnosis can be obtained by genetic confirmation. Discovery of an underlying mutation however does mostly not change the therapeutic approach encompassing lifelong magnesium supplementation. Gitelman syndrome, caused by heterozygous mutations in the thiazide-sensitive Na+/Cl− cotransporter NCC (SLCC12A3) in the DCT, is the most common cause of hereditary urinary magnesium wasting [16]. Although it is traditionally considered as a benign disease despite ongoing hyperaldosteronism and hypomagnesemia, nowadays also negative metabolic and cardiovascular effects are recognized [16].
Uncommon presentation of primary hyperaldosteronism with severe hypomagnesemia: a Gitelman syndrome mimic
Published in Renal Failure, 2019
Phatharaporn Kiatpanabhikul, Wasakorn Bunyayothin
Primary hyperaldosteronism (PA) usually presents with moderate to severe hypertension with or without hypokalemia in adults. However, PA is not commonly associated with severe hypomagnesemia [1]. By contrast, Gitelman syndrome (GS) usually presents with clinical manifestations of normotension, hypokalemia and hypocalcemia due to hypomagnesemia [2]. Here, we present a patient who was diagnosed with very severe hypomagnesemia and hypokalemic paresthesia with mild hypertension attributed to PA mimicking GS. We also discuss the differences in the clinical manifestations and pathogenesis between these two diseases.
The patient with metabolic alkalosis
Published in Acta Clinica Belgica, 2019
Valentine Gillion, Michel Jadoul, Olivier Devuyst, Jean-Michel Pochet
Bartter syndrome refers to a group of recessive tubulopathies with impaired salt reabsorption in the thick ascending loop of Henle with an important subsequent salt wasting, metabolic alkalosis with hypokalemia and hypercalciuria. Gitelman syndrome is a milder tubular disorder with a usual adult onset. Bi-allelic mutations in the thiazide-sensitive Na-Cl cotransporter of the distal convoluted tubule result in renal tubular salt-wasting disorder with hypokalemic metabolic alkalosis, hypocalciuria and hypomagnesemia. These salt-losing conditions lead to hypovolemia and secondary hyperaldosteronism