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Case Report
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene
Se Eun Lee, Yun Hye Jung, Kyoung Hee Han, Hyun Kyung Lee, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2011;54(2):90-93.   Published online February 28, 2011

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 and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and...

Pseudohypoaldosteronism in a premature neonate with severe polyhydramnios in utero
So Yoon Ahn, Son Moon Shin, Kyung Ah Kim, Yeon Kyung Lee, Sun Young Ko
Clin Exp Pediatr. 2009;52(3):376-379.   Published online March 15, 2009
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 the basis of normal 17-hydroxyprogesterone levels, elevated aldosterone, and clinical symptoms. His serum electrolyte levels were corrected with sodium chloride supplementation. Sodium supplementation was reduced gradually and discontinued at 5...
A case of idiopathic renal hypouricemia
Moon Hee Han, Sang Uk Park, Deok-Soo Kim, Jae Won Shim, Jung Yeon Shim, Hye Lym Jung, Moon Soo Park
Clin Exp Pediatr. 2007;50(5):489-492.   Published online May 15, 2007
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 may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal...
A Case of Type IV-4 Renal Tubular Acidosis
Young A Jo, Dong Un Kim, Yoon Kyung Lee, Byung Jun Choi, Jin Tack Kim, Ik Jun Lee
Clin Exp Pediatr. 1997;40(11):1603-1607.   Published online November 15, 1997
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 plasma renin and aldosterone. PHA is believed to result from distal tubular unresponsiveness to circulating aldosterone and has normal renal and adrenal fuction. Hypoaldosteronism can easily be suspected when the patient shows typical electrolyte imbalance (hyponatremia coupled with...
A Case of Pseudohypoaldosteronism
In Nam Kang, Jong Won Lee, Jin Guen Bang, Du Bong Lee
Clin Exp Pediatr. 1995;38(8):1160-1163.   Published online August 15, 1995
Psudohypoaldosteronism is a salt-wasting disease with unresponsiveness to mineralcorticoid and normal renal and adrenal function. Characteristic findings are severe hyponatremia, hyperkalemia and hyperaldosteronemia. We experienced a case of pseudohypoaldosteronism ina 1-day-old female who was presented with abdominal distension. Laboratory data showed hyponatrmia, hyperkalemia, elevation of plasma renin activity and aldosterone concentration and normal renal, adrenal function. We reported a case of...
Two Male Siblings with Pseudohypoaldosteronism Type I
Ran Lee, Sang Yong Kim, Sung Dong Choi, Seung Yun Chung, Jin Han Kang, Byung Churl Lee
Clin Exp Pediatr. 1994;37(2):262-268.   Published online February 15, 1994
Pseudohypoaldosteronism (PHA) is rare herediary salt wasting syndrome due to peripheral resistance to aldostrone. PHA type I, subdivided into isolated renal insensitivity to aldosterone of autosomal dominant inheritance and multiple target organ defect of autosomal recessive inheritance, and PHA type II show similar clinical manifestations except hypertension which is limited to type II. PHA type I is charaterized by hyponatremia, hyperkalemia,...
A Case of Pseudohypoaldosteronism
Yong Soon Kwon, Hyo Gyoung Shin, Mi Soo Ahn, Hong Bae Kim
Clin Exp Pediatr. 1992;35(7):984-988.   Published online July 15, 1992
Pseudohypoaldosteronism(PHA) is rare salt losing disease which is characterized by mineralcorticoid unresponsiveness of the end organ. Severe hyponatremia and hyperkalemia are present despite high plasma aldosterone. We experienced a case of PHA in a 40-days old male infant who was presented with anorexia, vomiting and lethargy for several days. Labortory data showed hyponatremia, hyperkalemia and metabolic acidosis. Renal function was normal...
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