Can Continuous Subcutaneous Insulin Infusion Improve Health-Related Quality of Life in Patients with Shwachman–Bodian–Diamond Syndrome and Diabetes?

Abstract

We report the first case of the use of continuous subcutaneous insulin infusion (CSII) in a patient with Shwachman-Bodian-Diamond syndrome (SBDS) and diabetes. An Italian boy received diagnosis of SBDS at the age of 7 months (SBDS gene mutation: c.183-184TA → CT and c.258 + 2 T → C in compound heterozygous). The patient presented an impaired psychosocial functioning with difficulties in mental health, body pain experiences, attention deficit disorder, somatic complaints, behavioral and social problems. Total Intelligence Quotient (T-IQ) was within the normal range for age (T-IQ = 109). The patient developed clinical diabetes at the age of 13 years (glycemia 282 mg/dL at 120 min of oral glucose tolerance test, glycosylated hemoglobin level of 7.5%, anti-β-cell antibodies negative; glucagon test yielding a C peptide level at zero-time of 1.5 ng/mL and at 6 min of 2.0 ng/mL). Multiple daily injection therapy with insulin was started. Nevertheless, because of a relevant needle phobia and the recurrent hypoglycemia due to poor nutrition secondary to depression, after 3 years the patient started CSII. After 12 months a new evaluation showed (1) better social adaptation, (2) meliorated self-esteem and self-efficacy, (3) reduced psychosocial suffering, and (4) improved health-related quality of life, assessed by the Pediatric Quality of Life Inventory version 3.0 Diabetes Module. Thus CSII seems to be crucial to improve health-related quality of life in patients affected by diabetes and genetic disorders.

Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan

“…We searched three electronic databases to identify the relationship between medical treatment and prognosis of SDS patients. On PubMed, 24 articles were identified, consisting of a clinical practice guideline, two case series, six case reports, and 15 reviews . On ICHUSHI, 13 articles were identified: two case reports and 11 reviews .…”

“…In these reports, pancreatic enzyme replacement therapy, fat‐soluble vitamins and trace element supplementation, parenteral nutrition therapy and intake of MCT formula were performed as medical interventions, and these treatments often improved the condition of malabsorption and provided relief from steatorrhea and diarrhea in several reports . Pichler et al .…”

“…In the present systematic review, we obtained clinical information on 46 patients in two case series and eight case reports . The age range was 0.25–19 years old.…”

“…When the two reviewers had different opinions that could not be resolved by discussion, a third person was invited to make a final decision. We ultimately identified 37 studies addressing the medical treatment for malabsorption or prognosis in SDS . The strength of evidence for each study was determined according to the Medical Information Network Distribution Service ( MINDS) Handbook for Clinical Practice Guideline Development 2014 of the Japan Council for Quality Health Care, and Grading of Recommendations Assessment, Development and Evaluation (GRADE), and an evidence table constructed …”

“…15 In the present systematic review, we obtained clinical information on 46 patients in two case series 3,4 and eight case reports. [5][6][7][8][9][10]26,27 The age range was 0.25-19 years old. Pancreatic exocrine insufficiency was noted in 39 patients; 43 patients had pancreatic enzyme replacement; and nine patients had fat-soluble vitamin supplementation.…”