Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Metabolism: Single Center Experience Over Two Decades

Objective: We present outcome data on hematopoietic stem cell transplantation (HSCT) in children with inborn errors of metabolism (IEM). Methods: We retrospectively analyzed data on children up to 18 years of age, diagnosed with IEM, who underwent HSCT between January, 2002 and December, 2020. Results: 24 children, (mucopolysaccharidosis – 13, Gaucher disease – 4, X-linked adrenoleukodystrophy – 4, metachromatic leukodystrophy – 2, Krabbe disease – 1) were included. Donors were matched family donors in 24%, matched unrelated donors in 34%, and haploidentical fathers in 42% of the transplants, with engraftment in 91% of children. Overall survival was 72% (55-100%) with a median followup of 76.5 (10-120 ) months, and progression-free survival of 68% (MPS-76%, X-ALD - 60%, Gaucher disease – 50%, and 100% in MLD and Krabbe disease). Conclusion: HSCT is an available curative option, and early age at HSCT prevents end-organ damage.

Quality Matters – Hematopoietic Stem Cell Transplantation versus Transfusion and Chelation in Thalassemia Major

Objective: To compare quality of life of children with thalassemia major who haveundergone stem cell transplantation with those on regular transfusion. Methods: Thestudy included 40 children who underwent transplantation and 40 children and 20 adults onregular transfusion and iron chelation therapy. The quality of life assessment was doneusing the Pediatric Quality of Life Inventory 4.0 Generic Core Scale. Results: The meantotal summary score, psychosocial summary score and physical score was 92, 91 and92.8, respectively in transplant group and 83, 82.7 and 83.6, respectively in children intransfusion group. The adult group on transfusion showed overall poorer scores of 74.9, 76and 73.9, respectively. The average scores in all domains were significantly (P<0.05) lowerand drop steeply in second decade in transfusion group. Conclusion: Allogeneic stem celltransplantation improves quality of life in thalassemia major.

Hematopoietic Stem Cell Transplantation for Primary Immunodeficiency Disorders: Experience from a Referral Center in India

Objective: To share experience of over 15 years in hematopoieticstem cell transplantation in children with primaryimmunodeficiency disorders.Design: Medical record review.Setting: A referral center for pediatric hemato-oncologicaldisorders.Participants: Children (<18 y) diagnosed to have primaryimmune deficiencies who underwent hematopoietic stem celltransplantation between 2002 and August 2017.Main outcome measures: Disease-free survival, morbidity andmortality.Results: 85 primary immunodeficiency disorder transplants wereperformed with engraftment noted in 80 (94%) transplants and anoverall survival of 67%. The conditioning regimen wasindividualized based on the underlying immune defect. Mixedchimerism was noted in 20% children with 56% (9/16) remainingdisease-free. Graft versus host disease was noted in 33 (39.2%)children with most seen in children with chronic granulomatousdisease. Severe combined immune deficiency transplants weremainly complicated by infections. Immune cytopeniascomplicated Wiskott Aldrich syndrome and Hemophagocyticlymphohistiocytosis transplants. 29.4% (25/85) childrenunderwent haploidentical transplant in our cohort with a survival of70% in this group. Infectious complications were the mostcommon cause of death.Conclusion: Primary immunodeficiency disorders are curable inIndia when transplanted in centers with experienced and trainedpediatric transplant physicians and intensivists

Clinical profile of abdominal tuberculosis in children.

Aim: A retrospective study was conducted in children, suffering from abdominal TB, attending Pediatric TB clinic from 2007 to 2009. Materials And Methods: Age-wise distribution and type of abdominal TB were analyzed with clinical features. Results : Out of 285 children with TB, 32 (11.2%) had abdominal tuberculosis. Male: Female ratio was 2.1:1. 7 (21.9%) children were < 5 years of age, 15 (46.9%) children were 5 - 10 years of age, and 10 (31.2%) children were > 10 years of age. The most common clinical features were fever in 24 (75%), pain in abdomen in 17 (53.1%), loss of weight in 15 (46.9%), raised ESR in 14 (43.8%), and loss of appetite in 13 (40.6%) children. TB contact was present in 10 (31.2%), and 7 (21.9%) children had tuberculosis in the past. 28 (87.5%) children had received BCG vaccine, and 17 (53.1%) had a positive Mantoux test. Extra-abdominal tuberculosis was found in 17 patients (53.1%). Duration of fever was more in children less than 5 years of age (127 ± 66 days) than that in children between 5 -10 years (37 ± 30 days) and in > 10 years of age (73 ± 66 days), which is statistically significant (P = 0.0228). Lymph node TB (17 patients, 53.1%) was found to be the commonest, followed by intestinal (10 patients, 31.2%) and peritoneal TB (4 patients, 12.5%). 18 (56.2%) of the total patients had recovered, 7 (21.9%) of all patients failed first line therapy and had to be started on second line drugs, of which 4 (12.5%) were proven to have drug-resistant TB. Conclusion : Abdominal TB is seen in 11.2% of children affected with TB, of which over 53% will have extra-abdominal manifestations. Common clinical and laboratory features include fever, pain in abdomen, loss of weight, loss of appetite, and raised ESR. The duration of fever is more in children of younger age group. Lymph node TB is the most common type of abdominal TB. Drug-resistant TB is seen in at least 12.5% of the patients.