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https://read.qxmd.com/read/33236328/impaired-distal-tubular-acidification-renal-cysts-and-nephrocalcinosis-in-monogenic-hypertension
#1
Menka Yadav, Aditi Sinha, Pankaj Hari, Arvind Bagga
Monogenic defects in tubular sodium handling contribute a small proportion to hypertension in childhood. Presentation varies from severe hypertension manifesting at birth to asymptomatic hypertension and hypokalemic metabolic alkalosis detected incidentally in adulthood. A 12-y-old girl presenting with polyuria, polydipsia, severe hypertension and seizures, was found to have hypokalemia, renal medullary cysts and nephrocalcinosis. Clinical exome revealed a homozygous variation of unknown significance in exon 5 of the HSD11B2 gene, indicating the diagnosis of apparent mineralocorticoid excess...
November 25, 2020: Indian Journal of Pediatrics
https://read.qxmd.com/read/33191723/congenital-chloride-diarrhea-in-patient-with-slc26a2-mutation-analysis-of-the-clinical-phenotype-and-differential-diagnosis
#2
Meiyuan Sun, Na Tao, Xiaomei Liu, Yang Yang, Yanfang Su, Fang Xu
INTRODUCTION: To analyze the clinical features and SLC26A3 mutation of one patient in our hospital who had congenital loss of chlorine diarrhea (CLD), and to investigate the treatment of the disease and the prognosis. MATERIAL AND METHODS: By reviewing the literature, analyzing the clinical features and differential diagnosis and investigating the treatment and prognosis, the patient was diagnosed as CLD. RESULTS: Excessive accumulation of amniotic fluid was observed during pregnancy...
November 16, 2020: Pediatric Endocrinology, Diabetes, and Metabolism
https://read.qxmd.com/read/33173177/congenital-chloride-diarrhea-clinical-features-and-management-a-systematic-review
#3
REVIEW
Lavinia Di Meglio, Giuseppe Castaldo, Caterina Mosca, Andrea Paonessa, Monica Gelzo, Maria Valeria Esposito, Roberto Berni Canani
INTRODUCTION: Congenital chloride diarrhea (CLD) is a rare autosomal recessive disorder characterized by watery diarrhea with a high level of fecal Cl- , metabolic alkalosis, and electrolyte alterations. Several intestinal and extraintestinal complications and even death can occur. An optimal knowledge of the clinical features and best therapeutic strategies is mandatory for an effective management. METHODS: Articles published between 1 January 1965 and 31 December 2019, reported in PUBMED and EMBASE, were evaluated for a systematic review analyzing four categories: anamnestic features, clinical features, management, and follow-up strategies...
November 10, 2020: Pediatric Research
https://read.qxmd.com/read/33167351/a-rare-cause-of-chronic-hypokalemia-with-metabolic-alkalosis-case-report-and-differential-diagnosis
#4
Cristina Bertulli, Marguerite Hureaux, Chiara De Mutiis, Andrea Pasini, Detlef Bockenhauer, Rosa Vargas-Poussou, Claudio La Scola
Hypokalemia and metabolic alkalosis can be present in different rare diseases, and the differential diagnosis of these forms is challenging. Apparent mineralcorticoid (AME) excess syndrome is one of these conditions. Characterized by increased blood pressure due to excessive sodium retention and plasma volume, it is caused by a mutation in the HSD11B2 gene encoding the oxydoreductase enzyme 11β-hydroxysteroide dehydrogenase type 2. We report the case of a child presenting with failure to thrive associated with early detection of hypokalemia, metabolic alkalosis, nephrocalcinosis and hypertension in which AME syndrome was detected...
November 5, 2020: Children
https://read.qxmd.com/read/33164684/metabolic-alkalosis-in-the-pediatric-patient-treatment-options-in-the-pediatric-icu-or-pediatric-cardiothoracic-icu-setting
#5
Joseph D Tobias
Metabolic alkalosis is characterized by the primary elevation of the serum bicarbonate concentration with a normal or elevated partial pressure of carbon dioxide. Although there may be several potential etiologies in the critically ill patient in the pediatric or cardiothoracic intensive care unit, metabolic alkalosis most commonly results from diuretic therapy with chloride loss. In most cases, the etiology can be determined by a review of the patient's history and medication record. Although generally innocuous with limited impact on physiologic function, metabolic alkalosis may impair central control of ventilation, especially when weaning from mechanical ventilation...
November 2020: World Journal for Pediatric & Congenital Heart Surgery
https://read.qxmd.com/read/32884933/a-family-with-gitelman-syndrome-with-asymptomatic-phenotypes-while-carrying-reported-slc12a3-mutations
#6
Moena Ishikawa, Yumi Tada, Hiromu Tanaka, Wataru Morii, Masako Inaba, Hidetoshi Takada, Takayasu Mori, Emiko Noguchi
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by alkalosis, hypokalemia, and hypomagnesemia. Although hundreds of genetic variants associated with GS have been reported, many of them are categorized as of uncertain significance in ClinVar. Here, we describe a pediatric GS patient from a three-generation family whose mother and maternal grandmother were asymptomatic. The proband was a 16-year-old Japanese girl with muscle weakness and continuous hypokalemic metabolic alkalosis. The patient, her mother, and her maternal grandmother were compound heterozygous for, and each expressing a different combination of, previously reported SLC12A3 variants in GS patients...
May 2020: Case Reports in Nephrology and Dialysis
https://read.qxmd.com/read/32670696/duodenal-stenosis-a-diagnostic-challenge-in-a-neonate-with-poor-weight-gain
#7
Ma Khin Khin Win, Carole Mensah, Kunal Kaushik, Louisdon Pierre, Adebayo Adeyinka
Cases of isolated duodenal stenosis in the neonatal period are minimally reported in pediatric literature. Causes of small bowel obstruction such as duodenal atresia or malrotation with midgut volvulus have been well documented and are often diagnosed due to their acute clinical presentation. Duodenal stenosis, however, causes an incomplete intestinal obstruction with a more indolent and varying clinical presentation thus making it a diagnostic challenge. We present a neonate with a unique case of congenital duodenal stenosis...
June 11, 2020: Curēus
https://read.qxmd.com/read/32669737/optimal-sweep-gas-to-blood-flow-ratio-v-q-for-initiation-of-cardiopulmonary-bypass-in-a-pediatric-patient-population-a-retrospective-analysis
#8
Sean P Clingan, James A Reagor, Nicholas J Ollberding
The optimal setting to achieve a suitable PaCO2 value of 35-45 mmHg upon initiating cardiopulmonary bypass (CPB) in the pediatric population is undefined in the literature. Sweep gas is set upon initiating and modified throughout CPB to reduce potential complications related to compensatory metabolic acidosis or metabolic alkalosis and associated cerebral blood flow fluctuations. This study retrospectively examined 1,077 CPB cases for which PaCO2 values were no less than 30 mmHg and no greater than 50 mmHg on the pre-CPB blood gas result...
June 2020: Journal of Extra-corporeal Technology
https://read.qxmd.com/read/32590952/transient-hyponatremia-of-prematurity-caused-by-mild-bartter-syndrome-type-ii-a-case-report
#9
Subhrata Verma, Rahul Chanchlani, Victoria Mok Siu, Guido Filler
BACKGROUND: Bartter syndrome subtypes are a group of rare renal tubular diseases characterized by impaired salt reabsorption in the tubule, specifically the thick ascending limb of Henle's loop. Clinically, they are characterized by the association of hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Bartter syndrome type II is caused by mutations in the renal outer medullary potassium channel (ROMK) gene (KCNJ1), can present in the newborn period and typically requires lifelong therapy...
June 26, 2020: BMC Pediatrics
https://read.qxmd.com/read/31958865/a-delphi-analysis-to-reach-consensus-on-preoperative-care-in-infants-with-hypertrophic-pyloric-stenosis
#10
Fenne A I M van den Bunder, Nigel J Hall, L W Ernest van Heurn, Joep P M Derikx
INTRODUCTION:  Infantile hypertrophic pyloric stenosis (IHPS) is a common gastrointestinal condition that can lead to metabolic alkalosis and, if uncorrected, to respiratory complications. A standardized approach to correct metabolic derangements and dehydration may reduce time until pyloromyotomy while preventing potential respiratory complications. Such an evidence-based policy regarding preoperative care is absent. We aim to formulate a recommendation about preoperative care for infants with IHPS using the Delphi technique...
January 20, 2020: European Journal of Pediatric Surgery
https://read.qxmd.com/read/31853802/systemic-lupus-erythematosus-complicated-by-a-gitelman-like-syndrome-in-an-8-year-old-girl
#11
Gowri Shankar Barathidasan, Sriram Krishnamurthy, Pediredla Karunakar, Ranjitha Rajendran, Kagnur Ramya, Gunasekaran Dhandapany, Jaikumar Govindaswamy Ramamoorthy, Rajesh Nachiappa Ganesh
An 8-year-old girl with recently diagnosed Systemic Lupus Erythematosus (SLE) (class 4 lupus nephritis with autoimmune hemolytic anemia) presented to the pediatric nephrology clinic with polyuria, tiredness and cramps; laboratory investigations revealed refractory hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria and hyperchloriuria. There was no history of diuretic administration. These features were consistent with the Gitelman syndrome. She required large doses of potassium and magnesium supplementation along with spironolactone, for normalization of the serum potassium and magnesium levels...
May 2020: CEN Case Reports
https://read.qxmd.com/read/30800941/chronic-salicylate-toxicity-simulation
#12
Mary Wittler, David A Masneri, Jennifer Hannum
Introduction: Chronic salicylate toxicity is an uncommon, potentially life-threatening poisoning that requires high clinical suspicion in order to make the diagnosis. We created a simulation case that challenges learners to analyze case information, construct a differential diagnosis of an elevated anion gap metabolic acidosis with respiratory alkalosis, and initiate treatment for this toxicity. Methods: The simulation case was designed for emergency medicine residents and pediatric emergency medicine fellows...
August 17, 2018: MedEdPORTAL publications
https://read.qxmd.com/read/29720912/use-of-arginine-hydrochloride-in-the-treatment-of-metabolic-alkalosis-or-hypochloremia-in-pediatric-patients
#13
Caroline M Sierra, Elvin A Hernandez, Kristine A Parbuoni
OBJECTIVES: Dosing of arginine for treatment of hypochloremia or metabolic alkalosis is laborious and has inherent variability in dose selection. The primary objective of this study was to determine the efficacy of arginine in the treatment of metabolic alkalosis and hypochloremia. Secondary objectives were to determine an optimal dose, route, and frequency for arginine administration in the treatment of these conditions. METHODS: This single center, retrospective, descriptive study was conducted in children who received arginine for treatment of hypochloremia or metabolic alkalosis...
March 2018: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://read.qxmd.com/read/29298718/s737f-is-a-new-cftr-mutation-typical-of-patients-originally-from-the-tuscany-region-in-italy
#14
Vito Terlizzi, Antonella Miriam Di Lullo, Marika Comegna, Claudia Centrone, Elisabetta Pelo, Giuseppe Castaldo, Valeria Raia, Cesare Braggion
BACKGROUND: An increasing number of patients have been described as having a number of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) variants for which it lacks a clear genotype-phenotype correlation. We assesses the clinical features of patients bearing the S737F (p.Ser737Phe) CFTR missense variant and evaluated the residual function of CFTR protein on nasal epithelial cells (NEC). METHODS: A retrospective database was performed from individuals homozygous or compound heterozygous for the S737F variant followed in the Cystic Fibrosis (CF) Centre of Florence...
January 3, 2018: Italian Journal of Pediatrics
https://read.qxmd.com/read/29181745/salicylate-intoxication-in-an-infant-a-case-report
#15
Rita Espírito Santo, Sara Vaz, Filipa Jalles, Leonor Boto, Francisco Abecasis
In children, the most common cause of an elevated anion gap (AG) with ketonemia, ketonuria, hyperglycemia, and glycosuria is diabetic ketoacidosis. However, when the clinical history is not clear, other causes must be considered. A 9-month-old girl was transferred to our pediatric intensive care unit (PICU) because of severe metabolic acidosis. On admission, she presented with Kussmaul breathing, tachycardia, irritability, and fever. Blood gasses revealed metabolic acidosis with superimposed respiratory alkalosis and elevated AG...
November 27, 2017: Drug Safety—Case Reports
https://read.qxmd.com/read/28959498/acute-hypocalcemia-and-metabolic-alkalosis-in-children-on-cation-exchange-resin-therapy
#16
Aadil Kakajiwala, Kevin T Barton, Elisha Rampolla, Christine Breen, Madhura Pradhan
BACKGROUND: Sodium polystyrene sulfonate (SPS) is a chelating agent used for the treatment of hyperkalemia. SPS has a wide range of exchange capacity requiring close monitoring of serum electrolytes. We observed two patients who developed acute hypocalcemia and increased metabolic alkalosis after initiating SPS therapy. We report these cases to draw attention to the potential risk of this medication in pediatric patients. CASE DIAGNOSIS/TREATMENT: Two children with chronic kidney disease on dialysis were started on SPS for hyperkalemia...
2017: Case Reports in Nephrology
https://read.qxmd.com/read/27748700/acetazolamide-therapy-for-metabolic-alkalosis-in-pediatric-intensive-care-patients
#17
Carolina López, Andrés José Alcaraz, Blanca Toledo, Lucía Cortejoso, Maite Augusta Gil-Ruiz
OBJECTIVE: Patients in PICUs frequently present hypochloremic metabolic alkalosis secondary to loop diuretic treatment, especially those undergoing cardiac surgery. This study evaluates the effectiveness of acetazolamide therapy for metabolic alkalosis in PICU patients. DESIGN: Retrospective, observational study. SETTING: A tertiary care children's hospital PICU. PATIENTS: Children receiving at least a 2-day course of enteral acetazolamide...
December 2016: Pediatric Critical Care Medicine
https://read.qxmd.com/read/27325428/liddle-syndrome-in-a-turkish-family-with-heterogeneous-phenotypes
#18
Bahar Büyükkaragöz, Aysun Caltik Yilmaz, Deniz Karcaaltincaba, Osman Ozdemir, Michael Ludwig
Liddle syndrome (LS) is a familial disease characterized by early onset hypertension (HT). Although regarded as rare, its incidence may be greater than expected because the classical findings of hypokalemic metabolic alkalosis with suppressed renin and aldosterone levels are not consistently present. Herein, we present the case of an adolescent boy and maternal relatives who were followed up with misdiagnosis of essential HT for a long duration. Clinical diagnosis of LS was confirmed on genetic analysis. Despite carrying the same mutation, the index patient and the family members manifested heterogeneous phenotypes of the disease including age at presentation, degree of HT, presence of hypokalemia and renal/cardiac complications...
August 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://read.qxmd.com/read/26123148/ultrasound-guided-paravertebral-block-for-pyloromyotomy-in-3-neonates-with-congenital-hypertrophic-pyloric-stenosis
#19
Javier Mata-Gómez, Rosana Guerrero-Domínguez, Marta García-Santigosa, Antonio Ontanilla
BACKGROUND AND OBJECTIVES: Hypertrophic pyloric stenosis is a relatively common affection of gastrointestinal tract in childhood that results in symptoms, such as projectile vomiting and metabolic disorders that imply a high risk of aspiration during anesthetic induction. In this way, the carrying out of a technique with general anesthesia and intravenous rapid sequence induction, preoxygenation and cricoid pressure are recommended. After the correction of systemic metabolic alkalosis and pH normalization, cerebrospinal fluid can keep a state of metabolic alkalosis...
July 2015: Brazilian Journal of Anesthesiology
https://read.qxmd.com/read/25960362/-ultrasound-guided-paravertebral-block-for-pyloromyotomy-in-3-neonates-with-congenital-hypertrophic-pyloric-stenosis
#20
Javier Mata-Gómez, Rosana Guerrero-Domínguez, Marta García-Santigosa, Antonio Ontanilla
BACKGROUND AND OBJECTIVES: Hypertrophic pyloric stenosis is a relatively common affection of gastrointestinal tract in childhood that results in symptoms, such as projectile vomiting and metabolic disorders that imply a high risk of aspiration during anesthetic induction. In this way, the carrying out of a technique with general anesthesia and intravenous rapid sequence induction, preoxygenation and cricoid pressure are recommended. After the correction of systemic metabolic alkalosis and pH normalization, cerebrospinal fluid can keep a state of metabolic alkalosis...
July 2015: Revista Brasileira de Anestesiologia
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