Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital.

OBJECTIVES:  The proposed screening study was aimed at determining the prevalence of Gaucher disease in a selected high-risk population of patients and describing the clinical profile of diagnosed patients. METHODOLOGY: It was a prospective observational study from January 2020 to September 2022 (two years and eight months) in the genetic clinic of the pediatric department. A total of 22 patients were suspected to be having Gaucher disease based on clinical findings of hepatosplenomegaly with bicytopenia or isolated thrombocytopenia. In these patients, chronic liver disease, portal hypertension, and other hematological conditions were ruled out. Three patients with Gaucher disease applied for enzyme replacement therapy (ERT) support under India Charitable Access Program and one patient received therapy for two months. Clinical findings were compared before and after ERT. Clinical findings were noted in all patients. RESULTS:  Among the 22 patients, nine (40.9%) patients were confirmed to be suffering from Gaucher disease with six based on enzyme assay on dry blood spot and three based on DNA mutation analysis. One patient among the screen positives received ERT for two months and was noted to have an improvement in hemoglobin and platelet count, a reduction in liver size, and better general well-being. CONCLUSION: High-suspicion targeted screening of Gaucher disease in patients with splenomegaly and thrombocytopenia based on a dry blood spot enzyme assay is high yielding, effective strategy in identifying Gaucher disease patients. Clinical features were variable in severity, though a common mutation was found in the majority of patients.

Low-dose hydroxycarbamide therapy may offer similar benefit as maximum tolerated dose for children and young adults with sickle cell disease in low-middle-income settings.

The multiple clinical benefits of hydroxycarbamide in sickle cell disease are supported by a large body of evidence. The maximum tolerated dose (MTD) is the regimen recommended by guidelines from a panel of National Heart, Lung, and Blood Institute (NHLBI) experts, but other dosage regimens have been used in babies (BABY-HUG) 9 to 18 months old (20 mg/kg per day) and developing countries such as India (10 mg/kg per day); however, there has been no direct comparison of the efficacy, effectiveness, or cost-effectiveness of these different regimens. The purpose of this review was to investigate the current situation with various hydroxycarbamide regimens with particular relevance to low-middle-income countries. In regard to methodology, a literature review was undertaken by using multiple databases in PubMed and Google and the search terms included sickle cell disease, hydroxyurea, hydroxycarbamide, sickle cell anaemia, low-middle-income countries, Sub-Saharan Africa, and India. Although MTD regimens have been widely used in research, especially within North America, clinical trials elsewhere tend to use fixed-dose regimens. In a survey of haematologists across Europe and Africa, 60% (75% response rate) did not use the MTD regimen for hydroxycarbamide treatment of sickle cell disease. The recommendations are (1) for practical purposes to commence using fixed-dose hydroxycarbamide in line with BABY-HUG recommendations and then (2) to consider or propose a trial comparing MTD escalation with various fixed doses and to include as end points health-related quality of life, haemoglobin F levels, adherence, and cost-effectiveness.

Cardiac status in children with acute poststreptococcal glomerulonephritis.

Acute poststreptococcal glomerulonephritis (PSGN) is the most common type of glomerulonephritis seen in children. It can affect multiple organs with heart being frequently involved. Yet, there are very few studies on cardiac status in children with PSGN and hence this study was conducted. All consecutive children from 1 month to 12 years of age, admitted over a two-year period with a diagnosis of PSGN, were included in the study. An electrocardiogram (ECG) and two-dimensional echocardiogram were performed in all patients on admission and repeated at six and 12 weeks, if abnormal. A total of thirty patients (18 males and 12 females) were enrolled in the study. The median age was six years. Prolonged QTc interval was found in 11 patients (37 %), of whom nine had hypertension. Seven of the 30 patients had a left ventricular ejection fraction (LVEF) <60%. The same patients also had left atrium/aorta ratio >2 and E/A ratio >2. LVEF returned to normal by six weeks in all except one patient, in whom it was normal by 12 weeks. Two of seven patients with low LVEF had normal blood pressure. All the seven patients recovered completely on follow-up. ECG and echocardiographic abnormalities may be seen in the acute phase of PSGN but are usually transient, returning to normal in most patients by three months. Although hypertension is the most common cause of cardiac failure, the role of primary myocardial dysfunction should also be considered.

Health Related Quality of Life in Patients with Transfusion-dependent Thalassemia.

Patients with transfusion-dependent thalassemia are expected to have an unfavorable quality of life due to multiple factors. We studied the quality of life in 72 patients (age 5-39 y) with transfusion-dependent thalassemia in the era of improved care, and assessed different parameters affecting it.

Health Related Quality of Life in Patients with Transfusion-dependent Thalassemia.

Patients with transfusion-dependent thalassemia are expected to have an unfavorable quality of life due to multiple factors. We studied the quality of life in 72 patients (age 5-39 y) with transfusion-dependent thalassemia in the era of improved care, and assessed different parameters affecting it.