1/36. Transient pseudo-hypoaldosteronism following resection of the ileum: normal level of lymphocytic aldosterone receptors outside the acute phase.Pseudo-hypoaldosteronism (PHA) is due to mineralocorticoid resistance and manifests as hyponatremia and hyperkalemia with increased plasma aldosterone levels. It may be familial or secondary to abnormal renal sodium handling. We report the case of a 54-year-old woman with multifocal cancer of the colon, who developed PHA after subtotal colectomy, ileal resection and jejunostomy. She was treated with 6 g of salt daily to prevent dehydration, which she stopped herself because of reduced fecal losses. One month later she was admitted with signs of acute adrenal failure, i.e. fatigue, severe nausea, blood pressure of 80/60 mmHg, extracellular dehydration, hyponatremia (118 mmol/l); hyperkalemia (7.6 mmol/l), increased blood urea nitrogen (BUN) (200 mg/dl) and creatininemia (2.5 mg/dl), and decreased plasma bicarbonates level (HCO3-: 16 mmol/l; N: 27-30). However, the plasma cortisol was high (66 microg/100 ml at 10:00 h; N: 8-15) and the ACTH was normal (13 pg/ml, N: 10-60); there was a marked increase in plasma renin activity (>37 ng/ml/h; N supine <3), active renin (869 pg/ml; N supine: 1.120), aldosterone (>2000 pg/ml; N supine <150) and plasma AVP (20 pmol/l; N: 0.5-2.5). The plasma ANH level was 38 pmol/l (N supine: 5-25). A urinary steroidogram resulted in highly elevated tetrahydrocortisol (THF: 13.3 mg/24h; N: 1.4 /-0.8) with no increase in tetrahydrocortisone (THE: 3.16 mg/24h; N: 2.7 /-2.0) excretion, and with low THE/THF (0.24; N: 1.87 /-0.36) and alpha THF/THF (0.35; N: 0.92 /-0.42) ratios. The number of mineralocorticoid receptors in mononuclear leukocytes was in the lower normal range for age, while the number of glucocorticoid receptors was reduced. Small-bowel resection in ileostomized patients causes excessive fecal sodium losses and results in chronic sodium depletion with contraction of the plasma volume and severe secondary hyperaldosteronism. Nevertheless, this hyperaldosteronism may be associated with hyponatremia and hyperkalemia suggesting PHA related to the major importance of the colon for the absorption of sodium. In conclusion, this case report emphasizes 1) the possibility of a syndrome of acquired PHA with severe hyperkalemia after resection of the ileum and colon responding to oral salt supplementation; 2) the major increase in AVP and the small increase in ANH; 3) the strong increase in urinary THF with low THE/THF and alpha THF/THF ratios; 4) the normal number of lymphocytic mineralocorticoid receptors outside the acute episode.- - - - - - - - - - ranking = 1keywords = hyperkalemia (Clic here for more details about this article) |
2/36. Absence of amiloride-sensitive sodium absorption in the airway of an infant with pseudohypoaldosteronism.We report the measurement of transepithelial voltage across the nasal epithelium in a neonate with pseudohypoaldosteronism (PHA) type 1. A 5-day-old infant was seen with hyponatremia, hyperkalemia, and elevated plasma renin and aldosterone levels. sweat Cl(-) concentration was also increased. Measurements of voltage showed a basal value of zero and the absence of an amiloride-sensitive voltage. However, voltage changed as expected for normal cyclic adenosine monophosphate-stimulated Cl(-) transport. These data demonstrate the absence of amiloride-sensitive Na( ) transport across airway epithelia in a neonate with PHA. The findings suggest that measurements of voltage could be of value in the diagnosis of PHA.- - - - - - - - - - ranking = 0.25keywords = hyperkalemia (Clic here for more details about this article) |
3/36. Gordon's syndrome: increased maximal rate of the Na-K-Cl cotransport and erythrocyte membrane replacement of sphingomyelin by phosphatidylethanolamine.OBJECTIVE: Gordon's syndrome comprises hypertension, hyperchloremic acidemia, hyperkalemia and intact renal function. We hypothesize that disturbances of one or more cell membrane ion carriers, handling sodium, chloride and potassium, might be relevant in this disorder and, furthermore, that such disturbances might be related to altered.cell membrane composition. DESIGN AND methods: In a patient diagnosed with Gordon's syndrome, we assessed the kinetics (K(m) and maximal rate) of four membrane sodium transport systems in sodium-enriched erythrocytes, according to the technique of Garay. We also measured the lipid composition of erythrocyte membrane in this patient and 69 essential hypertensive controls, using the latroscan technique. RESULTS: Compared to reference values of patients with essential hypertension, this patient exhibited a marked increase in the maximal rate of the Na -K -2Cl(-)-cotransport (964.0 micromol/l per cell versus the 391.6 /- 222 micromol/l per cell in essential hypertensives). Also, there was an increased concentration of erythrocyte membrane phosphatidylethanolamine and a reduced concentration of sphingomyelin (27.9 and 11.1% versus 17.9 /- 3.8% and 18.2 /- 3.4%, respectively). CONCLUSIONS: We conclude that this abnormality in membrane Na -K -2Cl- cotransport could be responsible for the hyperkalemia, hyperchloremic acidemia and increased reabsorption of sodium observed in this condition and, furthermore, that such disturbance in membrane cotransport might be related to altered phospholipid concentration in cell membranes.- - - - - - - - - - ranking = 0.5keywords = hyperkalemia (Clic here for more details about this article) |
4/36. pseudohypoaldosteronism: mineralocorticoid unresponsiveness syndrome.We described a 10 day old boy who presented with hyponatremia, hyperkalemia, and metabolic acidosis. Therapeutic treatment with exogenous glucocorticoid and mineralocorticoid for 8 months failed to correct the electrolyte abnormalities. The elevated serum cortisol up to 44.34 micrograms/dl along with the absence of skin hyperpigmentation excluded defects in the glucocorticoid pathway. pseudohypoaldosteronism was diagnosed on the basis of hyponatremia, severe urinary salt loss despite the markedly elevated serum aldosterone up to 6,500 pg/ml (normal range 50-800 pg/ml). The patient responded very well to oral salt supplementation and cation exchange resin therapy shown by normal physical growth and normal levels of serum electrolytes.- - - - - - - - - - ranking = 0.25keywords = hyperkalemia (Clic here for more details about this article) |
5/36. Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.The systemic form of pseudohypoaldosteronism type 1 (PHA1) is a rare autosomal recessive disorder with salt-wasting, hyperkalemia, metabolic acidosis, and multiorgan aldosterone unresponsiveness. Recently, this form of PHA1 was found to be caused by the loss-of-function mutations in the gene of each subunit (alpha, beta, and gamma) of the epithelial sodium channel (ENaC). To investigate the molecular basis of one sporadic Japanese patient with a systemic form of PHA1, we determined the nucleotide sequence of the genes of every subunit of ENaC of this patient. The patient was found to be a compound heterozygote for one base deletion in exon 12 (1627delG) in combination with 1570-1-->GA substitution at the 5' splice acceptor site of intron 11 in the gamma subunit gene of ENaC. The 1627delG mutation altered a reading frame, resulting in a premature stop codon in exon 12. Messenger rna from the allele harboring the splice site mutation was not identified by RT-PCR. In conclusion, two novel mutations in the gamma subunit gene of ENaC caused systemic PHA1 in the sporadic Japanese patient. Identification of the molecular basis of PHA1 is helpful for early diagnosis and understanding the pathophysiology of the disease.- - - - - - - - - - ranking = 0.25keywords = hyperkalemia (Clic here for more details about this article) |
6/36. Transient pseudohypoaldosteronism with complex malformation of internal genitalia. A case report.At the age of 3 weeks, a girl presenting with acute dehydration was admitted to our hospital. Clinical and laboratory findings revealed malformations of the genitourinary tract, an acute urinary infection and electrolyte disturbances (severe hyponatremia at 115 mmol/l and mild hyperkalemia at 5.6 mmol/l). According to anamnestic data, the child was born to healthy, nonconsanguineous parents. Vaccum extraction was done in the 38th gestational week due to pathological cardiotocography (CTG) findings. Auxological parameters were within the normal range for gestational age. Normal values for 17-OH progesterone and ACTH ruled out congenital adrenal hyperplasia (CAH). Pathologically high aldosterone and plasma renin activity (PRA) confirmed the diagnosis of pseudohypoaldosteronism with salt-wasting crisis which proved to be transient.- - - - - - - - - - ranking = 0.25keywords = hyperkalemia (Clic here for more details about this article) |
7/36. pseudohypoaldosteronism associated with ureterocele and upper pole moiety obstruction.A 2-month-old girl was diagnosed with a febrile urinary tract infection. Subsequent studies revealed a right renal duplication anomaly with a poorly functioning upper pole moiety subtended by an intravesical ureterocele. The patient was also found to have hyperkalemia, hyponatremia, and elevated serum aldosterone. After antibiotic therapy, the urinary tract infection resolved, although the electrolyte and hormonal abnormalities persisted. At 4 months of age, a right upper pole heminephrectomy was performed. The patient's electrolyte and hormonal levels normalized. This case represents an unusual case of pseudohypoaldosteronism presenting with urinary tract infection and obstructed upper pole moiety that resolved after surgical intervention.- - - - - - - - - - ranking = 0.25keywords = hyperkalemia (Clic here for more details about this article) |
8/36. Transient pseudohypoaldosteronism with hyponatremia-hyperkalemia in infant urinary tract infection.PURPOSE: We describe an uncircumcised male infant and a female neonate treated for infant urinary tract infection who had multiple hormonal and electrolyte abnormalities consistent with the diagnosis of transient pseudohypoaldosteronism. MATERIALS AND methods: We retrospectively reviewed these 2 cases. RESULTS: In each case successful treatment of infant urinary tract infection was accompanied by the resolution of all hormonal and electrolyte abnormalities, including hyperaldosteronemia, hyperreninemia, hyponatremia and hyperkalemia. CONCLUSIONS: Because of future renal scarring, decreased renal function and possible hypertension, appropriate hormonal studies should be performed in infants with infant urinary tract infection who also have hyponatremia and hyperkalemia.- - - - - - - - - - ranking = 1.5keywords = hyperkalemia (Clic here for more details about this article) |
9/36. Salt losing nephropathy simulating congenital adrenal hyperplasia in an infant.Pseudo-hypoaldosteronism occurring predominately in male infants has been reported in association with a spectrum of urologic diseases including obstructive uropathy. This is thought to reflect tubule unresponsiveness to aldosterone. We report a case, which was misdiagnosed as a case of congenital adrenal hyperplasia and treated inappropriately with hydrocortisone and fludrocortisone for 12-months before he had a urinary tract infection and was discovered to have obstructive uropathy on ultrasound. He presented with vomiting, dehydration, hyperkalemia, hyponatremia and metabolic acidosis. His initial 17 hydroxyprogestrone was high. His electrolytes improved to normal after relieving the obstruction by vesicostomy and his treatment weaned slowly without complications. This case demonstrates the importance of urine culture and ultrasound examination in suspected cases of pseudo-hypoaldosteronism.- - - - - - - - - - ranking = 0.25keywords = hyperkalemia (Clic here for more details about this article) |
10/36. Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na( ) channel subunit.Systemic pseudohypoaldosteronism type I (PHAI) is an autosomal recessive disorder that arises from loss of function mutations of the alpha, beta, or gamma subunit of Epithelial Na( ) Channel (ENaC). In addition to a severe renal phenotype in the neonatal period, patients with PHAI develop a childhood pulmonary syndrome characterized by cough and frequent respiratory infections. We tested a patient, born to consanguineous parents, who presented with dehydration, metabolic acidosis, hyperkalemia, elevated renin and aldosterone levels at birth, and recurrent respiratory symptoms in his first year. He demonstrated defective epithelial Na( ) transport in multiple organs (raised sweat Cl(-), 120 mM; raised salivary Na( ) and Cl(-), 118 and 111 mM, respectively; and little nasal amiloride-sensitive potential difference). No deleterious mutation was identified in the coding region of the three ENaC subunits. Reverse transcriptase-polymerase chain reaction of nasal epithelial rna showed reduced betaENaC expression, and inability to amplify promoter elements indicated the possibility of a deletion in the 5' region. Using a probe that corresponded to exon 1A of betaENaC, we confirmed a large deletion (> 1,300 bp). In summary, a homozygous mutation in the promoter region of betaENaC leads to PHAI, the first description of a mutation in the regulatory regions of an ENaC subunit leading to a clinical phenotype.- - - - - - - - - - ranking = 0.25keywords = hyperkalemia (Clic here for more details about this article) |
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