• Search
  • Advanced Search

Search

  • HOME
  • Search
Original Article
Lowe syndrome: a single center's experience in Korea
Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2014;57(3):140-148.   Published online March 31, 2014
Purpose

Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.

Methods

The clinical findings and results of genetic studies were...

Case Report
A Case of ARCI Syndrome with Hypoplasia of Corpus Callosum and Heart Anomaly
Eo-Jin Kim, Young-Ran Yoon, Min-Hae Lee, Ki-Su Kang, Jae-Young Lim, Myoung-Bum Choi, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2003;46(8):826-830.   Published online August 15, 2003
ARCI syndrome consists of arthrogryposis, renal tubular acidosis, cholestatic jaundice and icthyosis. We experienced an ARCI syndrome case with corpus callosum hypoplasia and atrial septal defect. This case had oral feeding difficulty, multiple joint contracture, renal tubular acidosis and neurogenic muscular atrophy at neonatal period. At two months of age, icthyosis and cholestatic jaundice were diagnosed. The case was hospitalized...
A Case of Congenital Hepatic Fibrosis Accompanied by Renal Tubular Ectasia, Caroli Syndrome and Choledochal Cyst
Bong Seok Choi, Sang Nam Bae, Yong Tak Im, Jae Hong Park, Chang Hoon Lee, Jun Woo Lee
Clin Exp Pediatr. 2002;45(7):923-927.   Published online July 15, 2002
Congenital hepatic fibrosis is a relatively rare disease, characterized by bile ductular proliferation and prominent fibrosis in the portal area of liver resulting in portal hypertension. It is frequently associated with other abnormalities such as polycystic kidney, Caroli syndrome, cystic dysplasia of pancreas, intestinal lymphangiectasia, pulmonary emphysema, hemangioma, and cleft palate. We report here a case of congenital hepatic fibrosis...
Original Article
The Role of Aldosterone on the Development of Renal Tubular Reabsorption in Low Birth Weight Infants
Byung Min Choi, Hoe Kyoung Koo, Jin Won Yook, Kyoung Bum Kim, Gi Young Jang, Moon Hee Kim, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 2001;44(11):1233-1242.   Published online November 15, 2001
Purpose : To determine the postnatal changes in aldosterone action on the renal tubular reabsorption in low birth weight(LBW) infants, we assessed the relation of the aldosterone concentrations to renal parameters during the first 10 days of life. Methods : Twenty LBW infants were evaluated and their gestational ages ranged from 32.4 to 39.3 weeks and their birth weights ranged from...
Case Report
A Case of Distal Renal Tubular Acidosis Associated with Medullary Sponge Kidney
Sung Jun Jang, Jo Yun Jung, Jun Sik Kim, Heung Sik Kim, Hee Jung Lee
Clin Exp Pediatr. 2001;44(1):89-93.   Published online January 15, 2001
Renal tubular acidosis is a clinical state of systemic hyperchloremic acidosis resulting from impaired urine acidification. Medullary sponge kidney is a renal parenchymal malformation characterized by cystic dilatation of the collecting ducts. Although medullary sponge kidney is a congenital disease, it is rarely identified in childhood and is usually discovered in adulthood. Medullary sponge kidney patients may have defects in...
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...
Original Article
Primary Distal Renal Tubular Acidosis in Children
Byoung Chul Kang, Hye Won Park, Il Soo Ha, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 1996;39(7):987-996.   Published online July 15, 1996
Purpose : This study was designed to examine the clinical characteristics and the effect of treatment in children with primary distal renal tubular acidosis (dRTA). Methods : Medical records of 4 children diagnosed as dRTA at Seoul National University Children's Hospital were reviewed, and the clinical manifestations, laboratory findings, diagnostic criteria and effects of treatments were investigated. Results : All cases presented with growth retardation....
A Study of Tubular Fluid Effects to Dysmorphic Urinary RBCs in Glomerular Hematuria
Byung Min Choi, Hyun Joo Kwak, Kee Hwan Yoo, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 1996;39(4):512-521.   Published online April 15, 1996
Purpose : Urinary red blood cell morphology has been used to localize the site of hematuria in the urinary tract. But the pathologic mechanism for dysmorphic urinary red blood cells remains undefIned. Our study was undertaken to investigate the mechanism of dysmorphic urinary RBCs in glomerular hematuria. We have attempted to reproduce in vitro the changes that occur in red cell...
Case Report
A Case of Neonatal Cholestasis with Arthrogryposis Multiplex Congenita and Renal Tubular Insufficiency(ARC Syndrome)
Hi Soo Rhee, Soon Young Kim, Nam Sun Baik, Il Soo Ha, Jeong Kee Seo
Clin Exp Pediatr. 1996;39(1):126-130.   Published online January 15, 1996
We report a case of ARC syndrome with arthrogryposis multiplex congenita, renal tubular insufficiency and cholestasis. The Patient presented in the early neonatal period with micrognathia, low set ears, high arched palate, multiple joint contracture, conjugated hyperbilirubinemia and failure to thrive. He died at the age of 1 month despite medical therapy. Findings of renal tubular insufficiency included persistent renal...
A Case of Distal Renal Tubular Acidosis
Bin Cho, Dong Sung Kim, Byung Churl Lee
Clin Exp Pediatr. 1994;37(1):115-112.   Published online January 15, 1994
Distal renal tubular acidosis (RTA) is a biochemical syndrome as a dificiency of hydrogen ion secretion by the distal tubule and collecting duct. Owing to the nature of the defect, hyperchloremic non-anion gap metabolic acidosis and high urine pH despite severe systemic acidosis is characterized. Typical manifestations of distal RTA are growth retardation, rickets, polyuria and nephrocalcinosis. We experienced a case of...
A Case of Distal Type of Renal Tubular Acidosis in a Neonate
Sung Sub Shim, Young Joon Kim, Jae Hong Park, Soo Yung Kim, Chan Yung Kim
Clin Exp Pediatr. 1992;35(7):1014-1018.   Published online July 15, 1992
A female infant at 38 days of age was admitted to pediatric department of Pusan National University hospital due to dehydration, weight loss, vomiting, polyuria. Physical exmination at the time of admission revealed a slightly anemic, moderately dehydrated, dwarfed female infant in no acute distress. Laboratory studies on admission revealed hypokalemic, hyperchloremic metablic acidosis with normal anion gap and persistent...
Original Article
A case of Distal Renal Tubular Acidosis.
Seong Gyoo Park, Gyung Min Ann, Sang Hee Park, Kwang Chul Lee, Chang Sung Son, Pyung Hwa Choi
Clin Exp Pediatr. 1990;33(4):539-543.   Published online April 30, 1990
Distal Renal Tubular Acidosis is rare disease which is characterized by impaired renal acidification at distal renal tubule and collecting duct. The urinary pH cannot be reduced below 5.8 despite severe systemic acidosis. A 6 months old boy was admitted to Ped. Dept, of Korea University Hospital due to fever and tachypnea. IVP and abdominal sonography were normal. Laboratory data showed hyperchloremia and metabolic acidosis....
Case Report
A Case of Distal Type of Renal Acidosis.
Han young Jeong, Soon Yol Whang, Sung Won Kim, Kyung Tae Kim, Kil Hyun Kim
Clin Exp Pediatr. 1987;30(3):314-319.   Published online March 31, 1987
A 5 years old girl was admitted to Ped. Dept, of St. Benedict Hospital due to pneumonia, gait disability and knock knee. Physical examination on admission showed a picture of full blown rickets such as poor development, waddling gait, knock knee, widening of both wrists, rachitic rosary and compatible X-ray picture. IVP showed bilateral nephrocalcinosis with normal excretory function. Laboratory data showed hypematremin, hyperchloremia,...