Principles of Cystinosis Transition in Children

Children with chronic illness need special care during the transition to adolescence and adulthood. Cystinosis is a chronic childhood disease characterized by chronic renal failure and multi-organ involvement. With advances in treatment and kidney transplantation methods, the life expectancy of these patients has been prolonged.  Renal transplantation is performed for most of the patients in childhood. These patients are at risk of non-adherence due to multiple drug usage and their chronic disease. As a child enters adulthood, parental care decreases and the patient should learn self-management. So the likelihood of non-compliance and loss of kidney transplant is high in transition time. This article gives a brief overview on transition of cystinosis patients from childhood to adolescence and adulthoo

Treatment of Hypertension in a Child With 11beta-Hydroxylase Deficiency: A Case Report

Introduction: Deficiency of 11-hydroxylase is clinically presented by external genitalia virilization in girls and precocious puberty in boys. Low renin hypertension occurs in both sexes. Early diagnosis and treatment of hypertension can prevent complications. Case presentation: We described a 4.5 years old girl of 46.XX, who presented with ambiguous genitalia at birth and hypertension later in follow-up. The patient had received the appropriate dosage of hydrocortisone and the level of 17-hydroxy progesterone was within the acceptable range but the hypokalemia persisted. Both hypertension and hypokalemia were normalized when spironolactone was added. Conclusion: Intermittent measurement of blood pressure is necessary for patients with 11β hydroxylase deficiency. In these patients, spironolactone is effective in treating mineralocorticoid-mediated hypertension and hypokalemia by blocking mineralocorticoid receptor. Keywords: Children, Congenital adrenal hyperplasia, 11 beta-Hydroxylase, Hypokalemia, Antihypertensive agent

Evaluation of patients with phenylketonuria before and after screening in Qazvin Province, Iran

BACKGROUND: Phenylketonuria (PKU) is a hereditary metabolic disorder and is inherited as autosomal recessive, so it is more likely to occur in consanguineous marriages. Early diagnosis is made by screening and timely treatment can prevent brain damage.METHODS: This was a descriptive study including all children identified with PKU in Qazvin Province, Iran, up to march 2017. The required information was obtained through interviews with parents and reviewing of cases. Data were analyzed using SPSS software.RESULTS: Of the 63 infected patients, 55.5% were residents of Qazvin City and the rest were residents of other cities in the province. Parents of 54.0% of the patients were related. 20.6% of patients had at least one patient with PKU in their family. The mean age that patients were diagnosed before screening was 34 months, and the statistical difference between the two groups was significant (P < 0.001). 52.4% of the patients were girls. The most common reason of referring of the patients before screening was a developmental delay. The prevalence of hyperactivity, seizures, and delay in walking and language were significantly different between the two groups (P <0.001).CONCLUSION: Early diagnosis and treatment of children with inherited metabolic diseases can prevent brain damage and retardation in them and reduce the financial and psychological burden of treating these children by maintaining their intelligence quotient (IQ)

Major Congenital Metabolic Disorders in the First 12 years of Life in 79,100 Consecutively Born Children in Qazvin Province

ObjectiveDeficient enzyme activity may cause congenital metabolic defects. These defectsare inherited in an autosomal recessive, autosomal dominant, and X-linkedpatterns. This study was aimed at investigating the occurrence of metabolicdiseases in Qazvin Province.Materials & MethodsThis cross-sectional study was performed on 79,100 children aged 12 years orless between 2000 and 2010. Clinical manifestations, laboratory findings, and allother essential information were assessed to precisely diagnose the metabolicdiseases. The sorted information on congenital metabolic defects of the patients,information included in a checklist, and data were analyzed usnig SPSS.ResultsA total of 57 metabolic disorders were recorded. The difference in the prevalenceof metabolic disorders between male (29 cases) and female (28 cases) wasnot statistically significant. The most frequent congenital metabolic disorderamong our patients was phenylketonuria (PKU; 5 per 1,000 cases), and the leastcommon disorder was galactosemia (3 per 1,000 cases).ConclusionTimely detection and management of congenital metabolic disorders canhelp save the affected children. Prenatal screening programs, molecular genetherapy, and counseling for consanguineous marriage can play important rolesin reducing the rate of metabolic disorders in this province.Keywords: Congenital metabolic disorders; prevalence; population; Qazvin  

Identification of a Novel Mutation in an Iranian Family with 17-β Hydroxysteroid Dehydrogenase Type 3 Deficiency; A case series

Background: To present the clinical and genetic features of a male ambiguity due to 17beta-hydroxysteroid dehydrogenase 3 (17B-HSD3) deficiency. Case presentation: The proposita was an 11-year-old girl and the first child of a consanguineous family. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. At age 10, she was referred to our clinic for more evaluation. In pelvic sonography, uterine and ovarian were not seen. Her karyotype was 46, XY and her LH and FSH levels were elevated, and three of the patient's aunts and one of the mother's aunts had similar signs. Conclusion: We identified a novel homozygous missense variation (c.731T>A, p. Ile244Lys) in HSD17B3 gene. This alteration changes Isoleucine to Lysine in exon 10. Keywords: 17-β-HSD3, Virilization, 46, XY, Ira

Association Between Overweight and Obesity and Overactive Bladder in Children: A Cross-sectional Study

Background: Overactive bladder (OAB) is a common cause of voiding dysfunction in children and is classified as lower urinary tract dysfunction (LUTD). In recent studies, obesity and overweight are assumed as risk factors for voiding dysfunction and urinary incontinence in children. Objectives: This study was conducted to evaluate the correlation between overweight and obesity with OAB in children. Methods: This cross-sectional study measured BMI in 56 children aged between 3 and 16 years with OAB (case group) and 56 healthy matched children (control group). Overweight and obesity were compared between the two groups. The study also accessed lower urinary tract symptoms and their association with BMI in the OAB children. The data were analyzed using the SPSS software version 18.0 for windows (SPSS Inc., Chicago, IL). Results: The mean age of the OAB patients was 7.71_2.65 years, and 38 (67.8%) of them were female. Frequency and holding maneuvers were the most prevalent complaints. A history of urinary tract infection was detected in 46 (82.1%) of the OAB patients. There were no significant differences in overweight and obesity between the two groups (P = 0.23). Conclusions: No correlation was observed between overweight and obesity with OAB. The reason may be different socioeconomic conditions or malnutrition in these children. Thus, it is recommended to perform a study with a larger sample size in our community to assess malnutrition in the general children population. Keywords: Children, Overactive Bladder, Body Mass Index, Urinary Incontinence, Urinary Tract Infectio

Evaluation of patients with phenylketonuria before and after screening in Qazvin Province, Iran

BACKGROUND: Phenylketonuria (PKU) is a hereditary metabolic disorder and is inherited as autosomal recessive, so it is more likely to occur in consanguineous marriages. Early diagnosis is made by screening and timely treatment can prevent brain damage. METHODS: This was a descriptive study including all children identified with PKU in Qazvin Province, Iran, up to march 2017. The required information was obtained through interviews with parents and reviewing of cases. Data were analyzed using SPSS software. RESULTS: Of the 63 infected patients, 55.5% were residents of Qazvin City and the rest were residents of other cities in the province. Parents of 54.0% of the patients were related. 20.6% of patients had at least one patient with PKU in their family. The mean age that patients were diagnosed before screening was 34 months, and the statistical difference between the two groups was significant (P < 0.001). 52.4% of the patients were girls. The most common reason of referring of the patients before screening was a developmental delay. The prevalence of hyperactivity, seizures, and delay in walking and language were significantly different between the two groups (P <0.001). CONCLUSION: Early diagnosis and treatment of children with inherited metabolic diseases can prevent brain damage and retardation in them and reduce the financial and psychological burden of treating these children by maintaining their intelligence quotient (IQ). KEYWORDS: Diagnosis; Phenylketonuria; Developmental Disabilitie

Frequency of Diabetic Ketoacidosis and Severe Hypoglycemia in Children with Type 1 Diabetes

Background and Objective: Diabetic ketoacidosis and severe hypoglycemia are common and recurrent acute complications of type 1 diabetes and are associated with high mortality and morbidity. The aim of this study was to determine the frequency of diabetic ketoacidosis and hypoglycemia in children with type 1 diabetes. Methods: In this retrospective cross-sectional study, 480 patients with type 1 diabetes admitted to the Children Hospital in Qazvin were enrolled by census method. Demographic characteristics, season of referral, place of residence, existence of type 1 diabetes in the family, kin relationship of parents, cause of hospitalization (hyperglycemia, hypoglycemia and diabetic ketoacidosis) and length of hospital stay were extracted from the files and examined. Findings: Most patients (62.9%) were female. 46%, 44.4% and 9.6% of patients were admitted with diabetic ketoacidosis, hyperglycemia and hypoglycemia, respectively. 47.96% of patients had severe diabetic ketoacidosis. 49.3% of patients had ketoacidosis with infection and 20% of known cases were hospitalized due to poor insulin compliance. Hospitalization days were significantly higher in patients with ketoacidosis (p=0.00). Conclusion: According to the results of this study, the occurrence of infection and lack of adherence to insulin use were the main cause of hospitalization in patients with diabetes, which led to an increase in hospitalization days in these patients. Adequate training to regulate blood sugar reduces the rate of hospitalizations. Keywords: Type 1 Diabetes Mellitus, Diabetic Ketoacidosis, Hypoglycemia, Insulin, Hyperglycemia

Differences in Response to Conventional Vitamin D Therapy among Obese and Normal Weight Children and Adolescents in Qazvin, Iran

Abstract Background Vitamin D (Vit D) deficiency is one of the major nutritional deficiencies in children. Obesity has inverse association with vitamin D levels. The aim of this study was to determine the differences in response to conventional treatment for Vit D deficiency and insufficiency in obese and normal weight children and adolescents. Materials and Methods: This nested case control study was conducted in 69 obese children and 133 normal weight matched control suffering from Vit D insufficiency or deficiency. Vit D deficiency was defined as serum 25(OH) D3 0.05). After follow up, mean Vit D level became 29.6 ng/mL in obese and 33 ng/mL in normal weight children (P<0.05). 39.8% of normal weight group still had Vit D insufficiency, while 50.7% of obese group had Vit D insufficiency or deficiency and the difference was borderline significant (P= 0.064). Conclusion Therapeutic response in obese children was less than normal weight children. It seems that treatment with higher doses of Vit D or longer period is necessary in obese children of the present study. Key Words: Adolescents, Children, Obesity, Vitamin D deficiency. *Please cite this article as: Saffari F, Shahroodi P, Oveisi S, Esmailzadehha N, Hajmanoochehri F, Jalilolghadr Sh, et al. Differences in Response to Conventional Vitamin D Therapy among Obese and Normal Weight Children and Adolescents in Qazvin, Iran. Int J Pediatr 2017; 5(9): 5725-32. DOI: 10.22038/ijp.2017.22473.188