1/18. Approach to the patient with hypertension, unexplained hypokalemia, and metabolic alkalosis.We present a patient with hypertension and hypokalemia secondary to an aldosterone-producing adenoma that was renin responsive (APARR). We discussed the sequential approach to the diagnosis of the different subtypes of primary aldosteronism and confirmed the presence of an APARR. The most common cause of primary aldosteronism is an aldosteronoma; functionally, these adenomas respond poorly to angiotensin ii but show a brisk response to adrenocorticotropin hormone. They have a pattern of aldosterone level that declines in parallel with cortisol levels. Our patient had an APARR, with an increase of aldosterone in the upright posture. The unusual physiologic response, incidence, and clinical characteristics of APARR are reviewed.- - - - - - - - - - ranking = 1keywords = aldosteronism (Clic here for more details about this article) |
2/18. Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.Gitelman's syndrome (GS) is characterized by hyperreninaemic hyperaldosteronism, hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria and is due to a defect of the Na-Cl cotransporter at the distal tubule, which may appear in a sporadic or in a familial form. It is an autosomal recessive disorder associated with normal or reduced blood pressure. We report a case of severe hypomagnesaemia-induced hypocalcaemia in a 39-year-old Caucasian woman with GS. The patient had impaired parathormone (PTH) responsiveness to peripheral stimuli, as proved by the marked PTH increase and normalization of plasma calcium levels after acute and chronic administration of magnesium salts. Secondary normotensive hyperreninaemic hyperaldosteronism with hypokalaemia and metabolic alkalosis was also present. Normal plasma renin activity (PRA) and aldosterone levels were restored by administration of an inhibitor of prostaglandin synthesis. The electrolyte imbalance was successfully corrected with chronic treatment with magnesium and potassium salts. Genetic analysis identified a compound heterozygous mutation in the Na-Cl cotransporter gene (NCCT), confirming the diagnosis of GS. The striking feature of this case of GS was impaired PTH responsiveness to peripheral stimuli determined by hypomagnesaemia and the resulting severe hypocalcaemia, which had not previously been described in this syndrome.- - - - - - - - - - ranking = 8.4163673540095keywords = hyperaldosteronism, aldosteronism (Clic here for more details about this article) |
3/18. Successful treatment by cyclooxyenase-2 inhibitor of refractory hypokalemia in a patient with Gitelman's syndrome.Gitelman's syndrome is manifested by hypokalemic alkalosis, hypomagnesemia, hypocalciuria, normotensive hyperreninemia and hyperaldosteronism. hypokalemia can at times be refractory to treatment. We present a patient refractory to a variety of drugs including indomethacin, the nonspecific COX inhibitor. Rofecoxib, a specific COX 2 inhibitor, promptly elevated serum potassium concentration with normalization of plasma aldosterone and near normalization of renin without a change in serum magnesium. Our patient also had rhabdomyolysis, a rarely reported complication, which was also ameliorated by COX 2 inhibition.- - - - - - - - - - ranking = 4.2081836770048keywords = hyperaldosteronism, aldosteronism (Clic here for more details about this article) |
4/18. Hypokalemic metabolic alkalosis--three case reports.The two most common forms of inherited normotensive hypokalemic metabolic alkalosis are Bartter's and Gitelman's syndromes. Bartter's syndrome typically present with normal or increased calcium excretion. Hypomagnesemia occurs in only one third of affected individuals. In contrast, hypomagnesemia and hypocalciuria are considered hallmarks of Gitelman's syndrome. In most patients, the symptom of muscle weakness and polyuria occur early in life, which may be attributed to potassium depletion. Despite hyperaldosteronism, the patients tend to be normotensive, which is at least explained by vascular hyperresponsiveness to prostaglandins. Therapeutic approaches to Bartter's and Gitelman's syndromes include potassium supplementation, prostaglandin synthesis inhibitors (nonsteroid anti-inflammatory agents), aldosterone antagonists and converting enzyme inhibitors. Three patients with hypokalemia, normal blood pressure, metabolic alkalosis, hyperreninemia and hyperaldosteronism are described. Two patients had Bartter's syndrome and one patients had Gitelman's syndrome.- - - - - - - - - - ranking = 8.4163673540095keywords = hyperaldosteronism, aldosteronism (Clic here for more details about this article) |
5/18. Renal sodium handling study in an atypical case of Bartter's syndrome associated with mitochondriopathy and sensorineural blindness.Bartter's syndrome is a disorder that has been linked to mutations in one of three ion transporter proteins: NKCC2 (type I), ROMK (type II) and CCLNKB (type III), which affects a final common pathway that participates in ion transport by thick ascending limb cells. We present an atypical case of mitochondriopathy combined with tubule functional disturbances compatible with Bartter's syndrome and definitive sensorineural blindness. Our patient had a peculiar clinical presentation with signs of salt and volume depletion, low blood pressure and secondary hyperaldosteronism, associated with hypokalemic metabolic alkalosis, hypocalcemia and severe hypomagnesemia, uncommon in genetic forms of Bartter's syndrome. The enhanced absolute and fractional sodium excretion in our patient compared to volunteers was accompanied by increased post-proximal sodium rejection, suggesting a striking ion transport dysfunction in these nephron segments. These findings lead to the Bartter's syndrome diagnosis, accompanied by a suppose mitochondrial tick ascending loop of henle epithelium dysfunction that may reflect the high energy supplied by mitochondria electron transport chain, required for this nephron segment to maintain normal ion transport.- - - - - - - - - - ranking = 4.2081836770048keywords = hyperaldosteronism, aldosteronism (Clic here for more details about this article) |
6/18. hypokalemia and alkalosis in adipsic hypernatremia are not associated with hyperaldosteronism.Idiopathic adipsic hypernatremia (AH) is a rare disorder associated with hypokalemia and alkalosis. Hypokalemic alkalosis has been presumed to be secondary to hyperaldosteronism. We evaluated plasma renin activity, serum aldosterone, serum and urine electrolytes in a 17-year-old patient with AH on several occasions. Despite evidence of mild dehydration, serum Na >160 and K <3.2, aldosterone levels were suppressed and plasma renin activity was not elevated. urine Na and K were not conserved. We also examined electrolyte and hormone levels in previously reported cases of AH. aldosterone levels were not increased in any of the cases when measured. renin secretion was increased in 2 patients. Among the compiled cases serum K was inversely correlated with serum Na (r = -0.73, p < 0.002, n = 15). hypokalemia and alkalosis occurring in AH are not associated with secondary hyperaldosteronism. patients with AH may have chronic renal losses of potassium leading to hypokalemia and alkalosis.- - - - - - - - - - ranking = 25.249102062029keywords = hyperaldosteronism, aldosteronism (Clic here for more details about this article) |
7/18. A novel splicing mutation in SLC12A3 associated with gitelman syndrome and idiopathic intracranial hypertension.We report a case of gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri). The patient, her twin sister, and her mother also presented with cerebral cavernous malformations. Based on the early onset and normocalciuria, bartter syndrome was diagnosed first. However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633 1G>C), providing the molecular diagnosis of GS. These mutations were not detected in 200 normal chromosomes and cosegregated within the family. Analysis of complementary dna showed that the heterozygous nucleotide change c.2633 1G>C caused the appearance of 2 RNA molecules, 1 normal transcript and 1 skipping the entire exon 22 (r.2521_2634del). Supplementation with potassium and magnesium improved clinical symptoms and resulted in catch-up growth, but vision remained impaired. Three similar associations of bartter syndrome/GS with pseudotumor cerebri were found in the literature, suggesting that electrolyte abnormalities and secondary aldosteronism may have a role in idiopathic intracranial hypertension. This study provides further evidence for the phenotypical heterogeneity of GS and its association with severe manifestations in children. It also shows the independent segregation of familial cavernomatosis and GS.- - - - - - - - - - ranking = 0.5keywords = aldosteronism (Clic here for more details about this article) |
8/18. Renovascular hypertension presenting with hypokalemic metabolic alkalosis.This report describes two adolescents with severe hypertension secondary to renal artery stenosis who had evidence of a hypokalemic metabolic alkalosis in their initial laboratory evaluation. Hypokalemic metabolic alkalosis is known to occur in approximately 16% of adults with renal artery stenosis but has not been well described in the pediatric literature. It is the result of excess aldosterone secretion stimulated by renal artery stenosis-mediated activation of the renin-angiotension system and by an increase in natriuresis from the contralateral, non-stenotic kidney. Although primary hyperaldosteronism must be considered in children with hypertension and hypokalemia, it is a rare disease in children. This report supports current recommendations that the initial focus of medical investigation in the severely hypertensive child should remain on the kidney.- - - - - - - - - - ranking = 4.2081836770048keywords = hyperaldosteronism, aldosteronism (Clic here for more details about this article) |
9/18. Hypokalemic alkalosis, hyperreninemia, aldosteronism, normal blood pressure and normal juxtaglomerular apparatus--a new syndrome of renal alkalosis.An infant with hypokalemic alkalosis, hyperreninemia, aldosteronism, normal blood pressure and normal juxtaglomerular apparatus (JGA) is described. This infant, along with other similar patients reported in the literature, represents a new syndrome of renal alkalosis, clinically and chemically similar to Bartter's syndrome, but without hyperplasia of the JGA.- - - - - - - - - - ranking = 2.5keywords = aldosteronism (Clic here for more details about this article) |
10/18. Two cases of saline-responsive metabolic alkalosis associated with high urinary chloride concentrations.Two particular cases of saline-responsive metabolic alkalosis associated with high urinary chloride concentrations were documented. In the first case, pseudoaldosteronism with long term glycylrrhetinic acid ingestion, and in the second case, probably salt losing nephropathy with extracellular fluid volume contraction were the putative causes of metabolic alkalosis, respectively. sodium chloride loading with saline (0.9% NaCl) infusion to these patients corrected the accompanying hypopotassemic metabolic alkalosis. Recent trends in the pathophysiology of both saline-responsive and saline-resistant metabolic alkalosis were discussed.- - - - - - - - - - ranking = 0.5keywords = aldosteronism (Clic here for more details about this article) |
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