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Pseudohypoaldosteronism Type 1 with a NovelMutation in the NR3C2 Gene: A Case Report

Kim YM, Choi IS, Cheong HI, Kim CJ, Yang EM

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type...
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Transient Pseudohypoaldosteronism in a 5-Month-old Infant Manifested as a Failure to Thrive

Lee JW, Cho SJ, Kim HS

Pseudohypoaldosteronism (PHA) in infants is manifested by presence of hyperkalemia, hyponatremia, and metabolic acidosis. At initial stages, PAH is generally suspected as congenital adrenal hyperplasia. Transient PHA has been reported...
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Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes

Jeong HA, Park YK, Jung YS, Nam MH, Nam HK, Lee KH, Rhie YJ

Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing...
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Pseudohypoaldosteronism Type 1

Cheong HI

Pseudohypoaldosteronism (PHA), a rare syndrome of systemic or renal mineralocorticoid resistance, is clinically characterized by hyperkalemia, metabolic acidosis, and elevated plasma aldosterone levels with either renal salt wasting or hypertension....
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A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene

Kim SY, Lee JH, Cheong HI, Park YS

  • KMID: 2098923
  • J Korean Soc Pediatr Nephrol.
  • 2013 Oct;17(2):137-142.
Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by...
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Transient Pseudohypoaldosteronism in an Infant with Vesicoureteral Reflux

Kim MK, Park SE, Lee JH

  • KMID: 2144673
  • J Korean Soc Pediatr Nephrol.
  • 2012 Apr;16(1):54-57.
A 6-month-old boy with vesicoureteral reflux exhibited features of transient type 1 pseudohypoaldosteronism (PHA) in the course of urinary tract infection. PHA presents hyponatremia, hyperkalemia, and metabolic acidosis, accompanying with...
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A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene

Lee SE, Jung YH, Han KH, Lee HK, Kang HG, Ha IS, Choi Y, Cheong HI

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology...
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Pseudohypoaldosteronism in a premature neonate with severe polyhydramnios in utero

Ahn SY, Shin SM, Kim KA, Lee YK, Ko SY

We report a case of a premature newborn baby who presented with hyponatremia, hyperkalemia, and metabolic acidosis accompanied by severe polyhydramnios in utero. The baby was diagnosed with pseudohypoaldosteronism on...
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WNKs: protein kinases with a unique kinase domain

Huang CL, Cha SK, Wang HR, Xie J, Cobb MH

  • KMID: 1090959
  • Exp Mol Med.
  • 2007 Oct;39(5):565-573.
WNKs (with-no-lysine [K]) are a family of serine-threonine protein kinases with an atypical placement of the catalytic lysine relative to all other protein kinases. The roles of WNK kinases in...
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A Case of Pseudohypoaldosteronism Type l Diagnosed after Infancy

Han SB, Lim CH, Lee KY, Kim JS, Kim WH, Uhm M

  • KMID: 2193470
  • J Korean Soc Pediatr Endocrinol.
  • 2007 Jun;12(1):82-86.
Pseudohypoaldosteronism (PHA) type l is a rare neonatal disease characterized by salt wasting, dehydration, hyperkalemia and metabolic acidosis. It is unresponsive to mineralocorticoid treatment with elevated aldosterone concentration. The three...
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A case of idiopathic renal hypouricemia

Han MH, Park SU, Kim DS, Shim JW, Shim JY, Jung HL, Park MS

Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure...
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A Case of Transient Pseudohypoaldosteronism Secondary to Ureteropelvic Junction Obstruction

Choi J, Hahn H, Park YS, You HW

  • KMID: 2197669
  • J Korean Soc Pediatr Nephrol.
  • 2004 Apr;8(1):91-95.
We report a 2-month-old boy who presented with severe hyponatremia and hyperkalemia secondary to ureteropelvic junction(UPJ) obstruction. By prenatal ultrasonography at 19 weeks of gestation, severe hydronephrosis was found which...
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Heterozygous Mutations of The Gene for Kir 1.1 (ROMK) in Antenatal Bartter Syndrome Presenting with Transient Hyperkalemia, Evolving to a Benign Course

Cho JT, Guay-Woodford LM

Bartter-like syndrome encompasses a set of inherited renal tubular disorders associated with hypokalemic metabolic alkalosis, renal salt wasting, hyperreninemic hyperaldosteronism, and normal blood pressure. Antenatal Bartter syndrome, a subtype of...
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Two Cases with Pseudohypoaldosteronism

Kim SJ, Lim PJ, Ban SH, Lee DH, Jin DK, Song SM, Kim JS

  • KMID: 2001528
  • J Korean Soc Pediatr Endocrinol.
  • 2000 Dec;5(2):215-219.
Pseudohypoaldosteronism is a disorder in which synthesis of aldosterone is normal but unresponsiveness of the target to the aldosterone activates angiotensin-renin system which in turn elevates levels of renin and...
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A Case of Type IV-4 Renal Tubular Acidosis

Jo YA, Kim DU, Lee YK, Choi BJ, Kim JT, Lee IJ

  • KMID: 2208070
  • J Korean Pediatr Soc.
  • 1997 Nov;40(11):1603-1607.
Type IV renal tubular acidosis (RTA) is due to renal tubular bicarbonate wasting associated with mineralocorticoid deficiency. In its five subtypes, IV-4 is due to pseudohypoaldosteronism (PHA) evidenced by increased...
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A case of pseudohypoaldosteronism

Kwon YS, Shin HG, Ahn MS, Kim HB

  • KMID: 1691103
  • J Korean Pediatr Soc.
  • 1992 Jul;35(7):984-988.
No abstract available.
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