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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...
Original Article
Methemoglobinemia Associated with Diarrheal Disease before 2 Months of Ag
Ji Ah Jung, Jung Won Lee, Jeong Wan Seo
Clin Exp Pediatr. 2001;44(12):1387-1394.   Published online December 15, 2001
Purpose : Methemoglobinemia has been observed during a diarrheal illness among those who were not exposed to oxidizing agents in neonates and young infants. We performed the study to determine predisposing factors in this entity. Methods : The medical records of 24 patients were reviewed, who were admitted for diarrhea with methemoglobinemia to Ewha Womans University MokDong Hospital, from February 1994 to November 2000. The...
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...
Transient Methemoglobinemia with Acidosis in Newborn
Heng Mi Kim
Clin Exp Pediatr. 1994;37(3):416-421.   Published online March 15, 1994
methemoglobinemia is an uncommon clinicl problem generally caused by inherited disorders of hemoglobin metabolism or environmental toxicity from oxidizing agents. Since methemoglobin has no oxigen carrying capacity, patient with severe methemoglobinemia may have dangerous hypoxia even when arterial oxygen tension is normal. Degree of exposure to oxidants which are benign for older individuals may produce severe methemoglobinemia in newborns. Acidosis without...
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 transient diabetes mellitus and diabetic ketoacidosis induced by L-asparaginase and prednisolone administration in a patient with relapsed acute lymphocytic leukemia.
Won Kyu Choi, Mee Kyung Namgoong, Har Yong Lee, Hwang Min Kim, Jong Soo Kim
Clin Exp Pediatr. 1991;34(9):1316-1322.   Published online September 30, 1991
L-asparaginase is known as an effective anticancer drug in the induction chemotherapy of acute lymphocytic leukemia. The side effects or toxicities of L-asparaginase and prednisolone are hypersen- sitivity reaction, hepatotoxicity, pancreatitis and transient diabetes mellitus, CNS toxicity, disorder of coagulation system and mild cytotoxicity. We experienced a case of transient diabetes mellitus and diabetic ketoacidosis induced by L- asparaginase, prednisolone, vincristine and MTX administration in...
A case of congenital lactic acidosis.
Suk Min Choi, Myeong Ku Cho, Dong Hwan Lee, Sang Jhoo Lee, Kikumaro Aoki, Shuichi Yamaguchi
Clin Exp Pediatr. 1991;34(1):95-100.   Published online January 31, 1991
The congenital lactic acidosis represent a sizable group of metabolic disorders. They are in all likelihood genetically determined, and they are clearly heterogenous. They may be considered broadly as disorders of pyruvate metabolism in which there are two general categories: defects in gluconeogenesis and defects in pyruvate oxidation. We experienced a case of congenital lactic acidosis in neonate who was diagnosed by urinary organic acid...
A Case of Diabetic Ketoacidosis Associated with Acute Lymphocytic Leukemia during Remission Induction Chemotherapy.
Gyu Jin Oh, Hwa Jeong Lee, Heui Jeong Kwon, In Sil Lee
Clin Exp Pediatr. 1990;33(11):1598-1603.   Published online November 30, 1990
L-asparaginase is known as an effective anticancer drug in the induction chemotherapy of acute lymphocytic leukemia. The side effects or toxicities of L-asparaginase are hypersensitivity reaction, hepatotoxicity, pancreatitis, transient diabetes mellitus, CNS toxicity, disorders of coagulation system and mild cytotoxicity. We report a female patient with acute lymphocytic leukemia develop- ing diabetic ketoacidosis during induction chemotherapy with L-asparaginase, parednisolone, vincris- tine and intrathecal methotrexate, who...
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....
A Case of Methylmalonic Acidemia.
Jong Hoon Park, Si Houn Hahn, Kee Hwan Yoo, Kwang Chul Lee, Chang Sung Sohn, Pyung Hwa Choe
Clin Exp Pediatr. 1989;32(7):984-989.   Published online July 31, 1989
Methylmalonic acidemia is an inborn error of metabolism, which is characterized by excretion of large amount of methylmalonate, and is transmitted as an autosomal recessive traits. The clinical symptoms begin in early life and are recurrent vomiting, lethargy, dehydration, failure to thrive. Laboratory findings show ketosis, metabolic acidosis, methymalonic aciduria with normal serum cobalamin level, hyperammonemia, pancytopenia. Two treatment regi- mens exist and should...
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,...
Original Article
Clinical Observation of Juvenile Diabetes Millitus.
Hae Il Cheong, Dong Gyoon Kim, Yong Choi, Kwang Wook Ko
Clin Exp Pediatr. 1983;26(6):553-563.   Published online June 30, 1983
Clinical data of 33 children with juvenile diabetes mellitus who were admitted to the Seoul National University Hospital from Jan. 1967 to Feb. 1983 were analyzed retrospectively. Male to female ratio was 10:23, the mean age at onset was 6 10/12 years, and there was considerable seasonal variation with peaks in late winter and spring. Polyuria and polydipsia were noted in all cases as...
Case Report
Three Cases of Insulin Dependent Diabetes Mellitus in Children.
Tae Hoon Lee, Sang Chul Park, Chang Hwi Kim, Sang Man Shin, Sang Jhoo Lee
Clin Exp Pediatr. 1983;26(3):285-289.   Published online March 31, 1983
We experienced three cases of Insulin Dependent Diabetes Mellitus, which revealed fullfilling- all characteristics of clinical 技 laboratory finding during recent 3 years. Two diabetic children among three patients had developed diabetic ketoacidosis. The one of the two cases, 14 aged girl complained of dyspnea & severe emaciation. The another case, 11 year and 2 month-old boy who had cataract complained of severe epigastric pain,...
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