Open Access Case Study

Clinical and Molecular Findings in a Moroccan Family with Primary Distal Renal Tubular Acidosis and Deafness by Mutation of ATP60A4 Gene: Case Report

Nadia Mebrouk, Rachid Abilkassem, Aomar Agadr

Asian Journal of Pediatric Research, Page 9-14
DOI: 10.9734/ajpr/2021/v6i430200

Primary distal renal tubular acidosis (dRTA) is a rare genetic disease characterized by distal tubular dysfunction leading to metabolic acidosis and alkaline urine.  It is associated with impaired acid excretion by the intercalated cells in the renal collecting duct.  dRTA is developed during the first months of life and the main clinical and biologic features are failure to thrive, vomiting, dehydration, anorexia, hyperchloremic non-anion gap metabolic acidosis, hypocitraturia, hypercalciuria and nephrocalcinosis.  The disease is caused by defects in genes involved in urinary distal acidification: ATP6V0A4 and ATP6V1B1 for the recessive form, and SLC4A1 for the dominant form.  Some dRTA cases due to recessive gene mutations are associated with hearing impairment.

We report the case of two siblings with dRTA, and early-onset SNHL, due to ATP6V0A4 mutations, and whose parents are heterozygous carriers of ATP6V0A4 mutations.

Open Access Case Study

Predictors of Good Metabolic Control of Diabetes in Adolescents Social, Epidemiological and Neuropsychological Dimensions

Jihane Ziati, Najlae El- Hafidi, Naima Bennani, Zineb Imane

Asian Journal of Pediatric Research, Page 15-21
DOI: 10.9734/ajpr/2021/v6i430201

Our study included 60 children with diabetes. We divided them into two groups: Group A and Group B. Patients assigned to Group A had controlled diabetes and formed our “Control Group”, while Group B was for patients with poorly controlled diabetes. This study was conducted in « The Home of the Young Diabetic » center in collaboration with the diabetes unit at the pediatric hospital of Rabat. Our goal was to identify the different predictors of metabolic control in diabetic adolescents by looking at the epidemiological data, lifestyle, social level, and the family life of different categories. Finally, we analyzed the results and suggested solutions.

To improve the medical care of diabetes provide better control of the teenage period and reinforce therapeutic education, it is necessary to propose social help to families in need and expand the right of health insurance to all citizens but also refund all the new technologies in diabetes treatment. Lastly, we suggested the integration of a psychological test at the beginning of the diabetes discovery and add it to the screening of complications.

Open Access Case Study

Long-Term Evolution of Patients with the Wolcott Rallison Syndrome: Case Series of 4 Patients and Review of Literatures

Najlae El Hafidi, Zineb Imane

Asian Journal of Pediatric Research, Page 22-28
DOI: 10.9734/ajpr/2021/v6i430202

Introduction: Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal diabetes in consanguineous families. associated with liver dysfunction, epiphyseal dysplasia, and. growth retardation. It is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3).

We report a long-term evolution of 4 patients with Wolcott Rallison syndrome.

Open Access Original Research Article

The Role of Certain Congenital Infections in Aplastic Anemia and Prognostic Value of Fetal Hemoglobin as a Follow-Up Marker

Enas Ahmed Sheta, Eslam El-Sayed El-Hawary, Amal Saeid Elbendary, Shebl Said Shebl

Asian Journal of Pediatric Research, Page 1-8
DOI: 10.9734/ajpr/2021/v6i430199

Background: TORCH infection has a role in aplastic anemia (AA). Fetal hemoglobin may be high in certain acquired hematological conditions such as aplastic anemia. We conducted this study to evaluate the correlation between certain congenital infections and severity of aplastic anemia and to study fetal Hb as a follow up marker during treatment of aplastic anemia. The aim of study was to correlation between certain congenital infection and severity of aplastic anemia and to study of hemoglobin F (HbF) as a follow up marker during treatment of aplastic anemia.

Methods: Our prospective study was conducted on 20 children aged up to 18 years diagnosed with aplastic anemia following either bone marrow aspiration or biopsy that proves bone marrow hypocellularity with absence infiltrative BM disease or inherited BM disease recruited from Pediatric Hematology-Oncology Unit of Tanta University Hospital. Patients were classified according to level of HbF in to high HbF group and normal HbF group.

Results: TORCH infections were detected in certain numbers of patients . HbF decreased in high HbF group after treatment. There was significant increase in CBC parameters in high HbF group than normal HbF group after treatment. There was insignificant decrease in mortality in high HbF group than normal HbF group. Mild to moderate cases were significantly higher with TORCH IgM +ve cases

Conclusions: Acquired AA is associated with TORCH infection. In treated cases of AA, improvement of hematological parameters is associated with high HbF and from these results, it can be used as a prognostic marker to monitor the successful response of these cases to the used line of treatment.

Open Access Review Article

Infections and Major Sickle Cell Syndromes at the Ziguinchor Peace Hospital / Senegal

Lamine Thiam, Isabelle Jokébé Coly, Habib Sarr, Mame Ngoné Coly, Alassane Diatta, Amadou Lamine Fall, Ibrahima Diagne, Ousmane Ndiaye

Asian Journal of Pediatric Research, Page 29-36
DOI: 10.9734/ajpr/2021/v6i430203

Background: Sickle cell disease is an inherited disorder of hemoglobin. It poses a public health problem in Senegal and mainly affects children and adolescents. Infections are the main cause of morbidity and mortality in children with sickle cell disease. The objective of our work was to assess infections associated with major sickle cell syndromes at the Ziguinchor Peace Hospital (ZPH).

Methods: This was a retrospective study, from October 1, 2015 to October 31, 2020. Included were sickle cell patients homozygous SS and heterozygous SC, hospitalized with fever ≥ 39°C, in whom an infectious assessment was performed. Excluded from the study were patients whose complete blood count, C-Reactive Protein, and rapid diagnostic test for malaria were not performed.

Results: During the study period, we collected 66 patient files (43 boys and 23 girls). The mean age was 7.6 years [8 months – 21 years]. The population consisted of SS sickle cell disease patients in 98.5% of cases. The average body temperature was 39.6°C [39 – 40.5°C]. The clinical picture on admission was predominantly vaso-occlusive crisis and anemia. The positivity of the bacteriological examinations was 2 cases for the blood culture, 3 cases for the urine culture. The infections were dominated by bronchopneumonia (31.8%); ear, nose and throat infections (31.8%) and osteoarthritis (15.2%). Four children presented with severe malaria and the immediate course was favorable for all patients.

Conclusion: otorhinolaryngological infections; Bronchopulmonary and osteoarticular diseases are frequent in children with sickle cell disease at the Ziguinchor peace hospital. we recommend support for the microbiology unit and systematic sampling in febrile sickle cell patients.