Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene. While chronic hypokalemia is known to induce renal cyst formation in different renal diseases, renal cyst formation in Bartter syndrome is rarely reported. Russian six-year-old identical male twins were referred to our hospital for the evaluation of renal cysts, which were incidentally detected on abdominal sonography due to diarrhea. Both twins had shown symptoms of polydipsia, polyuria, and nocturia since they were one year olds. Vital signs including blood pressure were normal in both twins. Renal sonography revealed nephromegaly, increased echogenicity of renal cortex, and various sized multiple cysts in both kidneys for both twins. Laboratory findings included hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis. Bartter syndrome with renal cysts were suspected. Genetic analysis for both twins confirmed a homozygous c.1614delC deletion on exon 15 of the CLCNKB gene, which was confirmed as a previously unreported variant to the best of our knowledge. They were managed with potassium chloride, nonsteroidal anti-inflammatory drugs, and angiotensin-converting-enzyme inhibitors. Metabolic alkalosis, hypokalemia, hypochloremia, and polyuria partially improved during the short course of treatment. This is the first report of a homozygous mutation in the CLCNKB gene in an identical twin, presenting with renal cysts.

Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene. While chronic hypokalemia is known to induce renal cyst formation in different renal diseases, renal cyst formation in Bartter syndrome is rarely reported. Russian six-year-old identical male twins were referred to our hospital for the evaluation of renal cysts, which were incidentally detected on abdominal sonography due to diarrhea. Both twins had shown symptoms of polydipsia, polyuria, and nocturia since they were one year olds. Vital signs including blood pressure were normal in both twins. Renal sonography revealed nephromegaly, increased echogenicity of renal cortex, and various sized multiple cysts in both kidneys for both twins. Laboratory findings included hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis. Bartter syndrome with renal cysts were suspected. Genetic analysis for both twins confirmed a homozygous c.1614delC deletion on exon 15 of the CLCNKB gene, which was confirmed as a previously unreported variant to the best of our knowledge. They were managed with potassium chloride, nonsteroidal anti-inflammatory drugs, and angiotensin-converting-enzyme inhibitors. Metabolic alkalosis, hypokalemia, hypochloremia, and polyuria partially improved during the short course of treatment. This is the first report of a homozygous mutation in the CLCNKB gene in an identical twin, presenting with renal cysts.

Purpose: We aimed to study the association of plasma neutrophil gelatinase-associated lipocalin (pNGAL) and leukocyte differential count in children with febrile urinary tract infection (UTI). Methods: Medical records of 154 children aged 1 month to 13 years with febrile UTI who were hospitalized were retrospectively reviewed. Associations between pNGAL levels and blood leukocyte differential count at admission and after 48 hours of treatment were investigated in children with or without acute pyelonephritis (APN). Results: The APN group (n=82) showed higher pNGAL levels, neutrophil count, monocyte count, and neutrophil-to-lymphocyte ratio (NLR), compared to the non-APN group (n=72) (all P<0.05). After adjustment for age and sex, pNGAL showed positive correlations with neutrophil count and NLR in both groups (all P<0.05). Additionally, it was correlated with the monocyte-to-lymphocyte ratio (MLR) only in the APN group (P<0.05). Before and after treatment, pNGAL was positively correlated with neutrophil count, NLR, and MLR in patients with APN while it was related with neutrophil count and NLR in those without APN (all P<0.05). Areas under the receiver operating curve of pNGAL, neutrophil count, NLR, and MLR for predicting APN were 0.804, 0.760, 0.730, and 0.636, respectively (all P<0.05). Only pNGAL was independently associated with the presence of APN in a multivariable logistic regression analysis (P<0.05). Conclusion In children with febrile UTIs, pNGAL might be associated with leukocyte differential count and the presence of APN.

Nutcracker syndrome (NCS) is a disease caused by compression of the left renal vein between the superior mesenteric artery and the abdominal aorta. Immunoglobulin A (IgA) nephropathy (IgAN) is characterized by the predominance of IgA deposits in the glomerular mesangial area. Hematuria and proteinuria can be present in both diseases, and some patients can be concurrently diagnosed with NCS and IgAN; however, a causal relationship between the two diseases has not yet been clarified. Here, we report two pediatric cases of NCS combined with IgAN. The first patient presenting with microscopic hematuria and proteinuria was diagnosed with NCS at the initial visit, and the second patient was later diagnosed with NCS when proteinuria worsened. Both patients were diagnosed with IgAN based on kidney biopsy findings and treated with angiotensin-converting enzyme inhibitors and immunosuppressants. A high index of suspicion and timely imaging or biopsy are essential for the proper management of NCS combined with glomerulopathy.

Cystinuria, a genetically inherited disorder, is a rare cause of kidney stones. It is characterized by impaired transport of cystine and amino acids in the proximal renal tubule and the small intestine. Most patients develop cystine stones throughout their lifetime. Recurrent renal stones need to be extracted by repeated urologic interventions. Treatment options of cystinuria for preventing stone recurrence are limited and poorly tolerated. In this study, we report a pediatric case of cystinuria with a heterozygous SLC3A1 mutation diagnosed by stone analysis, measurement of urine cystine excretion, and genetic analysis. There were recurrent renal stones despite repetitive shock wave lithotripsy and retrograde intrarenal surgery. However, the rate of stone formation seemed to be slower after D-penicillamine was added into adequate hydration and urinary alkalinization.

Purpose: Recurrent urinary tract infections (UTIs) in children is a major challenge for pediatricians. This study was designed to investigate the risk factors for recurrent UTIs and determine the association between recurrent UTIs and clinical findings, including growth patterns in infants and children younger than 24 months of age. Methods: We retrospectively reviewed the medical records of 147 patients <24 months of age with UTIs who were hospitalized between August 2018 and October 2021. The patients were divided into recurrent and single UTI episode groups. Clinical findings and anthropometric and laboratory data were compared between the two groups. Results: In the recurrent UTI group, the weight-for-length (WFL) percentile at the first UTI diagnosis was lower compared to the single UTI episode group, and the weight-for-age percentile at 3-month and 6-month follow-ups after the first UTI decreased (all P<0.05). In univariable logistic regression analysis, higher birth weight, lower WFL percentile, the presence of hydronephrosis, acute pyelonephritis or vesicoureteral reflux, the use of prophylactic antibiotics, and non-Escherichia coli infections were associated with the development of recurrent UTIs (all P<0.05). However, in the multivariable analysis, only the presence of hydronephrosis and prophylactic antibiotic use were independently related to UTI recurrence (P<0.05). Conclusion The presence of hydronephrosis at the first UTI can be helpful for predicting UTI recurrence in young children aged < 24 months. Antibiotic prophylaxis may be associated with UTI recurrence. Potential growth delay should be carefully monitored in infants with recurrent UTI.

Lupus anticoagulant hypoprothrombinemia syndrome (LAHPS) is a rare entity characterized by the presence of lupus anticoagulant (LA) and prothrombin (factor II) deficiency. It may cause severe bleeding contrary to classical antiphospholipid syndrome. Here, we report a case of LAHPS presenting with a hemorrhagic ovarian cyst in a 17-year-old girl with systemic lupus erythematosus (SLE) nephritis. She had been followed up for 8 years. Her first manifestation of SLE was prolonged gingival bleeding after tooth extraction at 9 years of age. During the follow-up period, she had neither severe bleeding nor thrombotic complications despite a positive LA and a prolonged activated partial thromboplastin time (aPTT). At this visit, the patient presented with colicky abdominal pain, a hemorrhagic ovarian cyst, a prolonged prothrombin time, a prolonged aPTT, a low factor II level, and a positive LA, leading to the diagnosis of LAHPS. While a hemorrhagic ovarian cyst resolved completely in 3 months, she received oral pill, transfusions of red blood cells and plasma, and intravenous cyclophosphamide pulse therapy in combination with glucocorticoids due to persistent menorrhagia, anemia, prolonged aPTT, and lupus flaring. Thus, LAHPS needs to be considered in SLE patients with positive LA and prolonged aPTT.

BACKGROUND: Hemodilution is known to increase cerebral blood flow, but it is not known why it is. We tried to investigate about these question like above. METHODS: Blood flow were checked on carotid artery after hemodilution by using electromagnetic blood flow-meter in 10 rabbits. Hemodilution was induced as 15 ml of lactated Ringers solution (LR) was infused after removing 5 ml of blood. Hemodilution was done 5 times in each rabbit. At 15 minutes after each hemodilution procedure, blood flow was checked and arterial blood gas analysis, and they compared with control data. The Sigma STAT and one way repeated measured ANOVA in Bonfferoni correction and regression analysis with DBSTAT PC application were used for statical analysis. RESULTS: Hemoglobin concentration and hematocrit in blood according to each hemodilution step decreased. At the same time, carotid blood flow increased following hemodilution. Though PaO2 level was not changed, CaO2 and pH, bicarbonate, and base excess in accordance with hemodilution were decreased. Also carotid blood flow calculated as increase 2.5 ml/min whenever hematocrit decreased 1%. CONCLUSIONS: We concluded as follow. Carotid blood flow increased to 2.5 ml/min (4.7%) whenever hematocrit decreased 1% by hemodilution. Whenever 15 ml of L/R solution was infused for acute hemodilution, carotid blood flow increased, on the contrary, hematocrit and arterial oxygen content decreased. Metabolic acidosis was induced by the large amount of L/R solution and it may be affected to carotid blood flows.
Acid-Base Equilibrium* ; Acidosis ; Blood Gas Analysis* ; Carotid Arteries ; Hematocrit ; Hemodilution* ; Hydrogen-Ion Concentration ; Magnets ; Oxygen ; Rabbits*

This study was conducted to evaluate the effect of antenatal ambroxol administration to the mothers who were imminent preterm delivery on preventing the neonatal respiratory distress syndrome. Forty-two preterm newborn infants who were delivered at Yeungnam University Hospital from January 1996 to December 1997 were divided into two groups, twenty-one ambroxol-treated group and twenty-one control group. Six cases of respiratory distress syndromes developed from 21 ambroxol-treated infants. but thirteen cases of RDS developed from 21 control infants. It indicated significant reduction of occurrence of RDS by antenatal administration of ambroxol (p<0.05). There were no differences in the occurrence of adverse effects of ambroxol in mothers between two groups, ambroxol-treated and control groups. There was also no difference between pre- and post-treatment hematologic and biochemical parameters in ambroxol-treated group. In conclusion, when premature delivery is expected, administration of ambroxol before delivery enhances lung maturation in premature newborn infants and prevents the occurrence of respiratory distress syndromes without significant adverse effects.
Ambroxol* ; Humans ; Infant ; Infant, Newborn ; Lung ; Mothers ; Respiratory Distress Syndrome, Newborn*

PURPOSE: To study the effect of a long-term, oral, fixed dose with a combination of alendronate and calcitriol on the cancellous bone microarchitecture in an ovariectomized rat model. MATERIALS AND METHODS: Twenty eight female Sprague-Dawley rats were divided into 2 equal groups: a non-medication group (OVX), and a medication group (ALD). The ALD group was treated with an oral daily fixed dose with a combination of alendronate and calcitriol for six months, starting from 4 weeks after ovariectomy, while the OVX group was given only a placebo. After six months, all animals were sacrificed, and an in vitro micro-CT analysis of the the distal femur was performed. The bone volume fraction (BV/TV), trabecular thickness (Tb.Th), trabecular separation (Tb.Sp), trabecular number (Tb.N), structure model index (SMI), connectivity density (Conn.D), and bone mineral density (BMD) were assessed. RESULTS: The ALD group had significantly higher BV/TV, Tb N, BMD and Conn.D and it also had significantly lower Tb Sp and SMI than the OVX group. CONCLUSION: A long term, daily, oral fixed dose with a combination of alendronate and calcitriol could significantly reduce the osteoporotic changes in this ovariectomized rat model.
Alendronate ; Animals ; Bone Density ; Calcitriol ; Female ; Femur ; Humans ; Ovariectomy ; Rats ; Rats, Sprague-Dawley