1.Disorders of Electrolyte Metabolism, Bartter Syndrome and Gitelman Syndrome.
KyoSun KIM ; Kee Hyuck KIM ; Pyung kil KIM
Korean Journal of Pediatrics 2004;47(Suppl 4):S772-S784
No abstract available.
Bartter Syndrome*
;
Gitelman Syndrome*
;
Metabolism*
2.Adrenogenital Syndrome with Congenital Adrenal Hyperplasia.
Myoung Sung MOON ; Kwang Nam KIM ; Woo Gill LEE
Journal of the Korean Pediatric Society 1984;27(5):511-515
No abstract available.
Adrenal Hyperplasia, Congenital*
;
Adrenogenital Syndrome*
3.Clinical Observation on Ureteral Stricture.
Korean Journal of Urology 1971;12(2):191-198
A Clinical observation was made oh the 32 cases of ureteral stricture not originated from calculi and tuberculous nature during the period from January 1960 to December 1969, and the following data were obtained: 1) There were 9 cases of stricture due to radical total hysterectomy and postoperative irradiation for cervix cancer, 5 cases of aberrant vessel, 4 cases of fibrosis of periureteral tissue and ureter itself, 2 cases of congenital ureteral stricture and 1 case due to ureteritis. 2) The ureteral stricture was noted in the upper in 10 cases, 8 cases were in the lower third of ureter. 3) The clinical manifestation included flank pain, tenderness along the course of ureter in 11 cases, mass in 8 cases and high fever, chill and general malaise in 7 cases. Hematuria, anuria, loss of weight and edema also were noted 4) Of the 32 cases, 12 cases underwent nephrectomy, 9 case, were submitted periodic dilation of ureter and 3 cases had good results with resection aberrant vessels. In 2 cases ureteroneocystostomy was performed utilizing bladder flap method. In still others, percutaneous ureterostomy was performed in 2 cases and lysis (deligation) of the ligated ureter was made in 1 cases. No manipulation was done at all in 1 cases.
Anuria
;
Calculi
;
Constriction, Pathologic*
;
Edema
;
Fever
;
Fibrosis
;
Flank Pain
;
Hematuria
;
Hysterectomy
;
Nephrectomy
;
Ureter*
;
Ureterostomy
;
Urinary Bladder
;
Uterine Cervical Neoplasms
4.Preputial Calculi Associated with Urethral Calculi, Bladder Calculi and Bladder Transitional Cell Carcinoma: A Case Report.
Sang O KIM ; Gyu Deok JUAG ; Chan Soo JANG ; Jae Seung PAICK ; Min Sung LEE
Korean Journal of Urology 1983;24(3):487-490
Preputial calculi is a very rare disease and a disease of phimosis. A case of preputial calculi associated urethral calculi, bladder-calculi and bladder transitional cell carcinoma was presented.
Calculi*
;
Carcinoma, Transitional Cell*
;
Female
;
Phimosis
;
Rare Diseases
;
Urinary Bladder Calculi*
;
Urinary Bladder Neoplasms
;
Urinary Bladder*
5.Preputial Calculi Associated with Urethral Calculi, Bladder Calculi and Bladder Transitional Cell Carcinoma: A Case Report.
Sang O KIM ; Gyu Deok JUAG ; Chan Soo JANG ; Jae Seung PAICK ; Min Sung LEE
Korean Journal of Urology 1983;24(3):487-490
Preputial calculi is a very rare disease and a disease of phimosis. A case of preputial calculi associated urethral calculi, bladder-calculi and bladder transitional cell carcinoma was presented.
Calculi*
;
Carcinoma, Transitional Cell*
;
Female
;
Phimosis
;
Rare Diseases
;
Urinary Bladder Calculi*
;
Urinary Bladder Neoplasms
;
Urinary Bladder*
6.A Case of Atypical Gitelman's Syndrome with Normomagnesemia and Normal Magnesium Excretion.
Jin Seok JEON ; Young Min KIM ; Hyunjin NOH ; Dong Cheol HAN
Korean Journal of Nephrology 2004;23(4):626-629
Gitelman's sydnrome is a heritable renal disorder characterized by hypomagnesemia, hypokalemia and hypocalciuria. As compared to those with Bartter's syndrome, reduced urinary excretion of calcium and magesium wasting are essential features of Gitelman's syndrome. Interestingly, we have experienced a case of 32-year old man with a mixed type of Gitelman's syndrome and Bartter's syndrome, which includes normomagnesemia, normal renal magnesium excretion, and hypocalciuria. Herein we report the case of atypical Gitelman's syndrome with brief review of related literature.
Adult
;
Bartter Syndrome
;
Calcium
;
Gitelman Syndrome*
;
Humans
;
Hypokalemia
;
Magnesium*
7.A Case of Gitelman Syndrome Presented with Epileptic Seizure.
Jee Min PARK ; Jeong Tae KIM ; Jae Il SHIN ; Heung Dong KIM ; Tae Young KIM ; Hae Il CHEONG ; Jae Seung LEE
Journal of the Korean Society of Pediatric Nephrology 2004;8(1):68-73
Both Gitelman syndrome and Bartter syndrome are autosomal recessively inherited renal tubular disorders characterized by hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Gitelman syndrome is caused by mutations in the thiazide-sensitive Na- Cl cotransporter (NCCT) and distinguished from Bartter syndrome, which is associated with mutations of several genes, by the presence of hypomagnesemia and hypocalciuria. In most of the patients with Gitelman syndrome, the disease manifests with transient episodes of muscular weakness and tetany in the adult period, but, often, is asymptomatic. We report here an 11 years-old female with Gitelman syndrome who presented with aggravation of epileptic seizure. The diagnostic work-up showed typical clinical features of metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. We also identified a heterozygote mutation(642CGC(Arg)>TGC(Cys)) and an abnormal splicing in the SLC12A3 gene encoding NCCT.
Adult
;
Alkalosis
;
Bartter Syndrome
;
Child
;
Epilepsy*
;
Female
;
Gitelman Syndrome*
;
Heterozygote
;
Humans
;
Hypokalemia
;
Hypotension
;
Muscle Weakness
;
Tetany
8.Risk Factors for Persistent Storage Symptoms after Holmium Laser Enucleation of Prostate.
Heejo YANG ; Sanghoon CHANG ; Younsoo JEON
Soonchunhyang Medical Science 2017;23(1):25-28
OBJECTIVE: Holmium laser enucleation of prostate (HoLEP) is as fast-paced treatment that is one of the standard treatment for benign prostate hypoplasia. However, there is a rare case that the satisfaction rate of surgery is lowered due to storage symptoms such as frequency and urgency. We investigated the risk factors of bladder irritation symptoms persisted after holmium laser enucleation of prostate. METHODS: From January 2009 to December 2014, 220 patients underwent HoLEP in Soonchunhyang University Cheonan Hospital. Among them, 133 patients were selected who did not have any problem that could affect the voiding function including urologic cancer, neurogenic bladder, urinary tract infection, and bladder stone disease. At 3 months after surgery patients were divided into two groups: postoperative International Prostate Symptom Score (IPSS) storage symptom scores <8 (group I) and ≥8 (group II). The two groups were analyzed the parameters: preoperative (prostate size, uroflowmetry, IPSS, prostate calcification), intraoperative (operative time, resected prostate weight), and postoperative (IPSS, uroflowmetry). RESULTS: Of the 133 patients, 94 patients were assigned to group I and 39 patients were group II. Age of the patients, the prostate size, and maximal urinary flow rate showed no statistical difference in both groups. Preoperative storage symptom scores were significantly higher in group II (P<0.05) and IPSS voiding-to-storage subscore ratio was lower in group II without significance (P<0.05). The prostate calcification, periurethral prostatic calcification, and intravesical prostatic protrusion was no difference in the two groups. Postoperative IPSS, maximal urinary flow rate, and post-void residual urine volume was improved in two groups but storage symptom score was not improved in group II. Operative time and resected prostate weight were not found the differences, and postoperative parameters (maximal urinary flow rate, post-void residual urine volume) were showed no difference in both groups. However all of the IPSS was higher in group II. CONCLUSION: Many symptom improvements after HoLEP were observed but some patients may have difficulties due to persistent bladder irritation. Because bladder irritation sign could persist after surgery if preoperative storage symptom score was higher, it is necessary for a detailed description before surgery.
Chungcheongnam-do
;
Holmium*
;
Humans
;
Lasers, Solid-State*
;
Operative Time
;
Prostate*
;
Prostatectomy
;
Risk Factors*
;
Urinary Bladder
;
Urinary Bladder Calculi
;
Urinary Bladder, Neurogenic
;
Urinary Tract Infections
;
Urologic Neoplasms
9.A Case of Pseudo-Gitelman's Syndrome Misdiagnosed as Gitelman's Syndrome.
Dong Kyu LEE ; Jae Myun JUNG ; Jun Goo KANG ; Tae Yeob KIM ; Tae Jong KIM ; Ho Suk OH ; Chang Youl CHOI ; Sang Woong HAN ; Ho Jung KIM
Korean Journal of Nephrology 2002;21(3):475-480
A 31-year-old woman had a history of fatigue and hypokalemia and metabolic alkalosis and hypocalciuria. The patient had a subtotal thyroidectomy and denied ingestion of diuretic medication. Her clinical and laboratory findings were consistent with Gitelman's syndrome. Normal blood pressure, hypokalemic metabolic alkalosis, hypocalciuria were present. She confessed to us that she had been taking a pill due to constipation for 7 years. She was afraid that her husband know it. But we don't know the reason why she had concealed it Surreptious ingestion of diuretics must be excluded in any adult patient in whom a diagnosis of Bartter's or Gitelman's syndrome is considered.
Adult
;
Alkalosis
;
Bartter Syndrome
;
Blood Pressure
;
Constipation
;
Diagnosis
;
Diuretics
;
Eating
;
Fatigue
;
Female
;
Gitelman Syndrome*
;
Humans
;
Hypokalemia
;
Spouses
;
Thyroidectomy
10.A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome.
Hee Won CHO ; Sang Taek LEE ; Heeyeon CHO ; Hae Il CHEONG
Korean Journal of Pediatrics 2016;59(Suppl 1):S103-S106
Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.
Alkalosis
;
Bartter Syndrome
;
Blood Pressure
;
Child
;
Computer Simulation
;
Exons
;
Gitelman Syndrome
;
Humans
;
Hyperaldosteronism
;
Hypokalemia
;
Male
;
Muscle Cramp
;
Nephrocalcinosis
;
Phenotype*