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1.
Postgrad Med ; : 1-8, 2024 May 31.
Article in English | MEDLINE | ID: mdl-38804969

ABSTRACT

OBJECTIVES: Over-testing and over-treatment are common in children with croup at pediatric emergency departments (PED). The objective of the study was to improve care for children with croup. METHODS: In this quality improvement (QI) initiative, all pediatric residents starting their rotation in the PED attended an informative presentation about croup and were provided reminders throughout their rotation. The primary outcome of this QI initiative was to reduce nebulized epinephrine (NE) use among children with mild croup by 50% over 7 months. The secondary outcome was to reduce X-rays by 50% over 7 months. Other outcomes included the administration of dexamethasone to all children with croup, reduction of antibiotics, laboratory tests, and revisits, and shortening the duration between physical examination to dexamethasone and NE treatments, and the length of stay (LOS) at the PED. RESULTS: NE administration to patients with mild croup decreased from 80.2% to 36.3% (p < 0.001). The proportion of children with X-rays decreased from 37.4% to 17.1% (p < 0.001). There was a significant increase in dexamethasone administration, and significant decreases in laboratory blood tests, expanded viral PCR panel tests, and antibiotic prescription among all croup cases (p < 0.001). Revisit rates were not significantly different (p > 0.05). Time to dexamethasone and LOS shortened significantly (p < 0.001). CONCLUSION: With this QI intervention, decreases in the rate of administration of NE to mild croup cases, antibiotic prescription, X-ray, laboratory blood and respiratory PCR panel tests in all croup cases were achieved without an increase in revisits. However, unnecessary NE, antibiotic, and X-ray rates are still high.

2.
Hum Vaccin Immunother ; 20(1): 2350090, 2024 Dec 31.
Article in English | MEDLINE | ID: mdl-38738691

ABSTRACT

During the initial half-year of their existence, infants cannot receive the influenza vaccine, yet they face the greatest susceptibility to severe influenza complications. In this study, we seek to determine whether influenza vaccination of maternal and household contacts is associated with a reduced risk of influenza-like illness (ILI) and severe acute respiratory infection (SARI) in infants. This work was prospectively conducted during the influenza season. A total of 206 infants were included in this study. The percentage of infants with only the mother vaccinated is 12.6% (n:26), and the percent of infants with all household contacts vaccinated is 16% (n:33). Among the infants with only the mother vaccinated, the effectiveness of influenza vaccine is estimated as 35.3% for ILI and 41.3% for SARI. Among infants with all household contacts vaccinated, the effectiveness is estimated as 48.9% for ILI and 76.9% for SARI. Based on the results of multivariate logistic regression analysis, all-household vaccination is a protective factor against SARI (OR: 0.07 95% CI [0.01-0.56]), household size (OR: 1.75, 95% CI [1.24-2.48]) and presence of secondhand smoke (OR: 2.2, 95% CI [1.12-4.45]) significant risk factors for SARI in infants. The mother alone being vaccinated is not a statistically significant protective factor against ILI (OR: 0.46, 95% CI [0.19-1.18]) or SARI (OR: 0.3, 95% CI [0.11-1.21]). Along with the obtained results and analysis, this study provides clear evidence that influenza vaccination of all household contacts of infants aged 0-6 months is significantly associated with protecting infants from both ILI and SARI.


Subject(s)
Influenza Vaccines , Influenza, Human , Vaccination , Humans , Influenza Vaccines/administration & dosage , Infant , Female , Influenza, Human/prevention & control , Male , Prospective Studies , Vaccination/methods , Respiratory Tract Infections/prevention & control , Respiratory Tract Infections/epidemiology , Family Characteristics , Adult , Mothers , Infant, Newborn
3.
Klin Padiatr ; 2023 Aug 28.
Article in English | MEDLINE | ID: mdl-37640049

ABSTRACT

BACKGROUND: Chronic hepatitis B (CHB) remains an important global public health problem. Seroconversion is highly correlated with favourable long-term outcome. There is no consensus on the treatment method, onset time and duration for paediatric CHB patients. In this study, we aimed to evaluate the course of children with CHB, to determine the characteristics of the patients who developed spontaneous seroconversion and treatment indications, and to compare the effectiveness of different treatment modalities. PATIENTS AND METHODS: Patients aged 1-18 years with a diagnosis of CHB were included in this study and evaluated for the development of spontaneous hepatitis B envelope antigen (HBeAg)/surface antigen (HBsAg) seroconversion and treatment modalities. The treated patients were divided into two groups according to their treatment regimen. RESULTS: Of the 114 patients, the median age at diagnosis was 8.4 years and median follow-up period was 5.2 years. Spontaneous HBeAg and HBsAg seroconversion developed in 18 (20.6%) of 87 HBeAg positive patients and two (1.8%) patients, respectively. Thirty-one patients were treated. The follow-up period was higher in the group with HBeAg seroconversion (p:0.005). There was no statistical difference between the patients in terms of seroconversion development and treatment status. The serum alanine aminotransferase (ALT) values at the time of diagnosis were statistically higher in treated patients. CONCLUSION: HBV infection and CHB continue to be an important problem for children in our country. Consensus on the appropriate ALT ULN is needed for the treatment of hepatitis in children.

6.
Eur J Pediatr ; 182(1): 165-171, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36264340

ABSTRACT

Although the effects of COVID-19 on children's physical health are relatively less serious, it is known that pandemic has serious effects on children's mental health. Anxiety and related symptoms increase among children during this period. The main purpose of this study is to measure children's anxiety about their parents and themselves with structured scales. Children who applied to the pediatric outpatient clinic were included in the study. Participants were asked questions about their parents' and their own concerns about getting COVID-19. Psychiatric symptoms of the participants were evaluated with the Revised Child Anxiety and Depression Scale, the Coronavirus Anxiety Scale, and Anxiety Sensitivity Index for Children. Increased social phobia, separation anxiety, generalized anxiety, total anxiety, total internalizing disorder scores, increased anxiety sensitivity, and increased coronavirus anxiety were detected among children who have increased subjective anxiety for themselves about getting COVID-19. In addition, increased social phobia, depression, separation anxiety, generalized anxiety, total anxiety, total internalizing disorder scores, and anxiety sensitivity were also detected among children who have increased subjective anxiety for their parents about getting COVID-19. In logistic regression, panic, separation anxiety, and generalized anxiety scores significantly predicted children's anxiety for their parents, and separation anxiety and generalized anxiety were shown to predict anxiety for themselves. CONCLUSION: Children who have increased subjective anxiety about their parents and themselves also have increased anxiety, anxiety sensitivity, and coronavirus anxiety scores. This is the first study which determines that children who are worried about their parents and themselves have higher levels of anxiety, depression symptoms, and anxiety sensitivity. WHAT IS KNOWN: • Although COVID19 pandemic's negative effects on the mental health of children and adolescents has been investigated and consistently demonstrated, the children's anxiety about their parents getting infection were less researched. WHAT IS NEW: • Children's anxiety about their parents getting SARS-Cov-2 infection was investigated with the questionnaires. • The scale scores of the children who expressed their anxiety with open-ended questions were statistically significantly higher.


Subject(s)
COVID-19 , Adolescent , Child , Humans , COVID-19/epidemiology , Mental Health , SARS-CoV-2 , Parents/psychology , Anxiety/epidemiology , Anxiety/etiology , Anxiety/psychology
7.
Turk Arch Pediatr ; 57(3): 290-294, 2022 May.
Article in English | MEDLINE | ID: mdl-35781231

ABSTRACT

OBJECTIVE: Breastfeeding is the principal feeding source in the first years of life. Its targeted rates are not achieved properly, globally. Multifactorial reasons have been reported, but the effect of the facilities in the hospitals including lactation consultation clinics have rarely been discussed. The aim of this study was to assess the effects of breastfeeding education in a first officially organized clinic. This may further help authorities make any necessary interferences and improve public health strategies. MATERIALS AND METHODS: A cross-sectional, interventional study was performed in 100 mothers who were given breastfeeding education and was compared with 100 mothers without education. All of the mothers were interviewed to assess breastfeeding attitudes after 6 months. RESULTS: The study group demonstrated higher exclusive breastfeeding rates than controls (76% and 28%, respectively). Having an education was the most significant factor affecting exclusive breastfeeding duration (P < .05). Complementary feeding, bottles, and pacifiers were introduced significantly earlier in the control group (P < .05) There was a negative association between breastfeeding duration and both bottle and pacifier use (P < .05). CONCLUSION: Lactation consultation at a breastfeeding clinic improved the breastfeeding rate. Extending this project to maternity and children's hospitals will help to achieve the desired national targets in exclusive breastfeeding.

9.
Z Rheumatol ; 81(4): 339-341, 2022 May.
Article in English | MEDLINE | ID: mdl-34468807

ABSTRACT

Involuntary movement disorders are rare in childhood. Hyperkinetic movement disorders including chorea stand as the leading cause. Although Sydenham chorea is the major diagnosis in most children and adolescents, appropriate differential diagnosis is fundamental for a final decision. A detailed and careful history as well as physical examination is the principal proceeding for accurate diagnosis. Herein, we report on an adolescent girl who was admitted to our hospital with chorea and subsequently diagnosed with systemic lupus erythematosus (SLE). Accompanying joint complaints in the patient's history, including growth retardation noticed during a physical examination and bicytopenia recognized in laboratory evaluation, increased the suspicion of SLE rather than Sydenham chorea in the patient. Central nervous system involvement defined as neuropsychiatric lupus presents wide clinical findings varying from stroke and seizures to psychosis and cognitive dysfunction. Although disease activity, persistently positive anticardiolipin antibodies, and lupus anticoagulant positivity are reported to be the most important risk factors in neuropsychiatric lupus, they are not always directly correlated. We present this patient in order to draw attention to the importance of physical examination and history in the differential diagnosis of chorea in childhood.


Subject(s)
Chorea , Lupus Erythematosus, Systemic , Lupus Vasculitis, Central Nervous System , Adolescent , Antibodies, Anticardiolipin , Child , Chorea/diagnosis , Chorea/etiology , Diagnosis, Differential , Female , Humans , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Lupus Vasculitis, Central Nervous System/complications , Lupus Vasculitis, Central Nervous System/diagnosis
10.
J Pediatr Intensive Care ; 10(3): 197-201, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34395037

ABSTRACT

The outbreak of coronavirus disease 2019 (COVID-19) and its consequences have led to fear and anxiety among individuals worldwide. The risk of coronavirus transmission frightens people more than any other health problem they face. Parents have concerns about being infected with COVID-19 and delay accessing hospitals even in an emergency which can be very detrimental to child health. Here, in this article, we would like to present eight patients delayed in admission to the hospital to draw attention to the harmful consequences of COVID-19 fear in the community. Although anxiety and fear are encouraging to take necessary precautions, exaggeration of these emotions may cause greater health problems.

11.
Ann Clin Psychiatry ; 33(3): 180-186, 2021 08.
Article in English | MEDLINE | ID: mdl-34398733

ABSTRACT

BACKGROUND: COVID-19 rapidly spread worldwide with high morbidity and mortality. In this study, we aimed to detect parental concerns along with their awareness of and attitudes towards COVID-19 among patients admitted to our inpatient and outpatient clinics. METHODS: This study was conducted at a children's hospital with 141 parents of children who were patients in the inpatient and outpatient clinics. Parents were asked to complete an anonymous questionnaire and psychiatric scales that included the Beck Depression Inventory, Beck Anxiety Inventory (BAI), and Impact of Events Scale-Revised form (IES-R). RESULTS: The study sample consisted of 141 parents, of which 59 were parents of inpatients and 82 were parents of outpatients. The most known COVID-19 symptoms were fever, difficulty in breathing, and cough, respectively. The most preferred precaution was "staying at home." We found a significant positive correlation between the number of precautions and BAI score (R = .169, P = .046). Inpatients' parents IES-R scores were significantly higher than outpatients' parents IES-R scores. CONCLUSIONS: Parents were found to be aware of the COVID-19 pandemic regardless of education status and family income. Participants' IES-R scores revealed significant differences in terms of COVID-19 impact on psychological health between the parents of inpatient and outpatient children; inpatients' parents were more concerned about COVID-19.


Subject(s)
Awareness , COVID-19/diagnosis , Parents/psychology , Psychiatric Status Rating Scales , Adult , Child , Cough/etiology , Cross-Sectional Studies , Dyspnea/etiology , Female , Fever/etiology , Humans , Male , Mental Health , Surveys and Questionnaires
12.
Paediatr Int Child Health ; 41(3): 228-230, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34229576

ABSTRACT

An overdose of isoniazid (INH) is potentially fatal and attempts at suicide are very rare in children. Three patients aged 14-17 years who were receiving INH for tuberculosis prophylaxis were admitted to the emergency department with generalised tonic-clonic seizures. There was metabolic acidosis and elevated levels of blood creatine kinase, aminotransferases and lactate dehydrogenase following ingestion of excess INH in attempts at suicide. The presumed total amounts of INH ingested were 3 g (40 mg/kg), 9 g (160 mg/kg) and 6 g (100 mg/kg), respectively. They all improved with general supportive measures including airway protection, gastric lavage, activated charcoal administration, sodium bicarbonate infusion, fluid replacement, seizure control and pyridoxine administration. They were discharged without complications. Attempts to commit suicide by excess intake of INH is rare in children but should be considered in the differential diagnosis of acute intractable seizures and metabolic acidosis refractory to conventional anticonvulsant therapy in adolescents.


Subject(s)
Isoniazid , Tuberculosis , Adolescent , Antitubercular Agents/adverse effects , Child , Humans , Pyridoxine , Seizures , Suicide, Attempted
13.
Clin Neurol Neurosurg ; 207: 106764, 2021 08.
Article in English | MEDLINE | ID: mdl-34171586

ABSTRACT

AIM: Longitudinally extensive transvers myelitis (LETM) is a rare and disabling condition in childhood. The aim of the present study was to share experiences from our center regarding the treatment features and clinical and radiologic course in our LETM patients in light of the literature data. MATERIAL AND METHOD: The study was designed as cross-sectional and included children who followed for LETM at our pediatric neurology clinic between 2010 and 2019. ATM was diagnosed according to the diagnostic criteria report from the Transverse Myelitis Consortium Working Group. LETM was defined as the presence of spinal cord lesions spanning a length of 3 or more consecutive vertebral segments. The patients' medical records were examined in terms of demographic characteristics, presenting symptoms, history of infection prior to and during LETM, prodromal history, neurological examination, laboratory and radiological findings, clinical course, and treatment. The Barthel Index was used to assess the physical independence in activities of daily living of patients with LETM who were followed for at least one year. RESULTS: A total of 15 (8 girl) patients were included in the study. The patients were between 1 and 17 years of age. Presenting symptoms included inability to walk in 12 patients, incontinence in 9 patients, low back pain in 4 patients, abdominal pain in 2 patients, and inability to use the arms in 2 patients. In Barthel Index assessment of physical independence in activities of daily living, 8 patients were evaluated as completely independent, 3 patients as moderately dependent, and 2 patients as slightly dependent. When the 4 patients with motor area impairment and moderate dependency according to the Barthel Index were examined, it was noted that all of them had been admitted 4 days after the onset of symptoms and that 2 (13.3%) had cervicothoracic involvement and 2 (13.3%) had involvement of the entire cord. CONCLUSION: Shorter delay from symptom onset to initiation of immunomodulatory therapy as well as effective rehabilitation resulted in favorable outcomes, with the most noticeable improvement in the areas of motor function and incontinence.


Subject(s)
Myelitis, Transverse/complications , Myelitis, Transverse/therapy , Activities of Daily Living , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Motor Activity , Myelitis, Transverse/diagnosis , Symptom Assessment
14.
J Community Psychol ; 49(7): 2264-2275, 2021 09.
Article in English | MEDLINE | ID: mdl-34191315

ABSTRACT

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder and pediatricians play a critical role in early diagnosis. This study was conducted to evaluate the knowledge, beliefs, and experiences of pediatric residents and pediatricians about ASD. A 35-item questionnaire consisting of two sections was administered. The diagnostic features section consisted of questions measuring the level of knowledge about diagnostic criteria of ASD. The general knowledge and beliefs section consisted of questions about beliefs and experiences regarding ASD. The study consisted of 101 participants. Mean score obtained by all participants from the diagnostic features section was 5.78 ± 1.65. The mean scores obtained by residents and pediatricians from the diagnostic features section were 5.35 ± 1.5 and 6.31 ± 1.68. Pediatricians obtained higher scores significantly than residents from diagnostic features section (t = -2.99, p = 0.004). The mean scores obtained by residents and pediatricians from section of general knowledge and beliefs were 13.69 ± 3 and 14.48 ± 3.15. This difference was not significant (t = -1.27, p = 0.225). This study suggests that participants' knowledge and awareness about ASD was insufficient and while pediatricians knew more about the diagnostic criteria, their awareness and approach regarding ASD were no different from pediatric residents in general practice.


Subject(s)
Autism Spectrum Disorder , Autism Spectrum Disorder/diagnosis , Child , Humans , Pediatricians , Surveys and Questionnaires , Turkey
15.
Turk J Med Sci ; 51(2): 706-715, 2021 04 30.
Article in English | MEDLINE | ID: mdl-33754655

ABSTRACT

Background/aim: Acute necrotizing encephalopathy is a rare type of acute encephalopathy characterized by multi-ocal brain lesions and associated severe neurological findings and various organ dysfunctions may accompany it. Materials and Methods: Patients with acute necrotizing encephalopathy of childhood diagnosed by pediatric neurology and pediatric intensive care at Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital between 2007 and 2020 were included in this study. Results: Nine patients (six females, three males) with a mean age of 4.05 ± 1.94 years (age range 1­6.5) were included in this study. The interval range between fever and encephalopathy in patients was 1­4 days. Influenza A (3H1N1, one untyped) was detected in four patients, influenza B in three patients, and no cause was found in two patients. Major clinical findings other than febrile encephalopathy in all patients were a hemodynamic shock in seven patients, seizures in six patients, vomiting in five patients, dystonia in three patients, and flaccid paralysis in the upper extremity in one patient. Despite all our treatment approaches, including plasmapheresis, moderate to severe neurological sequelae was observed in all of our patients, who survived even with significant radiological improvement. Three patients for whom we could not perform plasmapheresis died. Conclusion: Our study revealed that thalamic involvement increased as the interval shortened, and brainstem involvement increased in patients over four years of age. The presence of persistent vomiting accompanying encephalopathy during the parainfectious period and plasmapheresis treatment being a treatment option that could prevent mortality were cautionary for our study.


Subject(s)
Brain Diseases/diagnosis , Fever/etiology , Influenza, Human/diagnosis , Leukoencephalitis, Acute Hemorrhagic/diagnosis , Vomiting/etiology , Child , Child, Preschool , Female , Humans , Infant , Influenza A virus , Influenza B virus , Male , Pregnancy , Seizures/etiology
17.
J Immigr Minor Health ; 23(1): 11-18, 2021 Feb.
Article in English | MEDLINE | ID: mdl-32415315

ABSTRACT

Refugee children are defined as an at-risk population as they have a high risk of physical and mental health conditions. While data exist regarding the mental health of refugee children, there are limited data about their medical health issues and mortality. Therefore, this study aimed to analyze the demographic data, clinical results, treatment/management data, and mortality data of hospitalized refugee children. This is a descriptive study that analyzed the demographic data, clinical findings, treatment/management data, and mortality data of 728 refugee children aged between 1 month and 18 years who were hospitalized in a tertiary pediatric hospital between 2013 and 2018. During the 5 year duration of this study (2013-2018), there were 12,031 patients hospitalized in the department of general pediatrics. Of these patients, 728 (6%) were refugee children [median age 1.2 (IQR 4.4) years]. The most frequent ethnic origin was Syrian, followed by Iraqi and Afghan [465 (63.87%); 174 (23.9%), and 39 (5.3%), respectively]. The median duration of hospitalization was 6 (IQR 6) days. Those refugee patients who were hospitalized in the pediatric intensive care unit were significantly younger [median age 3.7 (IQR 9.4) years]. The mortality rate in the department of general pediatrics was 16.4% for refugee patients and 8.6% for non-refugee patients (p = 0.001). A logistic regression model revealed that factors associated with mortality included younger age (OR 1.6; CI 1.2-2.1) and being a refugee (OR 2.1; CI 1.3-3.2). Our study revealed detailed knowledge about demographic, clinical, and mortality data, with the largest known series about refugee children in the literature. The results show that mortality rates are significantly higher in refugee pediatric patients who are hospitalized in Turkey than in non-refugee patients.


Subject(s)
Hospitals, Pediatric , Mental Disorders , Pediatrics , Refugees , Child , Child, Preschool , Humans , Infant , Turkey
18.
Pediatr Emerg Care ; 37(7): e380-e383, 2021 Jul 01.
Article in English | MEDLINE | ID: mdl-30247456

ABSTRACT

OBJECTIVES: Lumbar puncture (LP) is fundamental for diagnosis and treatment; however, some parents do not provide consent for their children to undergo the procedure, which can make diagnosis and determination of the optimal treatment difficult. The present study aimed to describe the level of knowledge and attitudes toward LP of parents whose children were scheduled to undergo the procedure. METHODS: A prospective cross-sectional descriptive study of a convenience sample of parents of 84 children aged 2 months to 17 years scheduled for LP at a single academic children's hospital between 2015 and 2017. Parents were administered a written survey and interviewed by a physician other than the person who did the LP. Data on parental level of knowledge and attitudes regarding LP, in addition to reasons for refusal, were collected.The parents of 84 patients scheduled for LP due to various indications were administered a face-to-face survey interview. The survey was used to collect parental demographic data, as well as opinions and knowledge about LP and postinterventional complications. RESULTS: The mean age of the 84 patients (57% male and 43% female) was 6.4 ± 5.17 years. Lumbar puncture was planned for the presumptive diagnosis of neurological disease in 45.25% of the patients, central nervous system infection in 45.25%, and acute encephalopathy in 9.5%. Among the parents, 65% (n = 55) had no knowledge or attitude about LP prior to the survey interview. The most common parental concern related to LP was paralysis (25%), followed by infertility (2%), mental retardation (1%), and disease progression (1%). Only 4.7% of the parents did not provide consent for their child to undergo LP. CONCLUSIONS: We found that most parents had little knowledge about LP, and the most common parental concern was paralysis. Despite this, in our study, only 5% of parents did not consent to LP.


Subject(s)
Parents , Spinal Puncture , Attitude , Child , Child, Preschool , Cross-Sectional Studies , Female , Health Knowledge, Attitudes, Practice , Humans , Infant , Male , Prospective Studies , Surveys and Questionnaires
19.
J Clin Res Pediatr Endocrinol ; 13(1): 114-118, 2021 02 26.
Article in English | MEDLINE | ID: mdl-32302086

ABSTRACT

Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the transient receptor potential melastatin 6 (TRPM6) genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented. He had recurrent seizures since two years of age and was diagnosed with epilepsy and treated with multiple antiepileptic drugs. Subsequently, he was diagnosed with rickets due to severe hypocalcemia at another center. The patient was hypotonic and neurodevelopmentally poor. The most prominent laboratory finding was of hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in the TRPM6 gene. After parental treatment of intravenous magnesium (Mg2+) sulfate and calcium, the treatment was switched to enteral Mg2+ medications, due to persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of Mg2+ oxide with borderline blood Mg2+ levels and resolution of hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment.


Subject(s)
Hypocalcemia/drug therapy , Magnesium Deficiency/drug therapy , Magnesium Deficiency/genetics , Magnesium Oxide/pharmacology , TRPM Cation Channels/genetics , Child, Preschool , Humans , Hypocalcemia/etiology , Magnesium Deficiency/complications , Magnesium Oxide/administration & dosage , Male
20.
J Clin Res Pediatr Endocrinol ; 13(4): 446-451, 2021 11 25.
Article in English | MEDLINE | ID: mdl-32840096

ABSTRACT

Systemic pseudohypoaldosteronism (PHA) is a rare, salt-wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunits. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosterone and renin levels are expected findings in PHA. Clinical management is challenging due to high dose oral replacement therapy. Furthermore, patients with systemic PHA require life-long therapy. Here we report a patient with systemic PHA due to SCNN1B variant whose hyponatremia and hyperkalemia was detected at the 24th hour of life. Hyperkalemia did not improve with conventional treatments and dialysis was required. He also developed myocarditis and hypertension in follow-up. Challenges for diagnosis and treatment in this patient are discussed herein. In addition, published evidence concerning common features of patients with SCNN1B variant are reviewed.


Subject(s)
Epithelial Sodium Channels/genetics , Pseudohypoaldosteronism/diagnosis , Pseudohypoaldosteronism/genetics , Pseudohypoaldosteronism/therapy , Humans , Infant , Male
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