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Background: Familial hypocalciuric hypercalcemia (FHH) is a hypercalcemic syndrome that is usually characterized by uncomplicated hypercalcemia and normal longevity. The inheritance pattern is autosomal dominant with high penetrance, and it affects both men and women equally. FHH is caused by mutations that disturb the normal functioning of the calcium-sensing receptor (CaSR) gene. This causes a general lack of sensitivity to calcium, eventually leading to hypercalcemia and low calcium levels in the urine. Case Description: We report a case of a healthy 24-year-old female with longstanding hypercalcemia and a family history indicating asymptomatic hypercalcemia. The patient was also asymptomatic and had no significant past medical or surgical history. Laboratory investigations and the genetic study revealed findings suggestive of FHH subtype 1. Conclusions: The phenotype of FHH is normal, and symptoms of hypercalcemia are usually not present. Patients with FHH and hypoparathyroidism have lower calcium clearance than controls with hypoparathyroidism. This shows that relative hypocalciuria in FHH is not caused by hyperparathyroidism. Since calcium does not appropriately suppress or affect the parathyroid glands in FHH, this means that FHH is a disorder of abnormal transport of extracellular calcium and/or response to it in at least two organs, the parathyroid gland and the kidney. It is quite similar to primary hyperparathyroidism (pHPT) biochemically hence it is important to differentiate this condition from pHPT and hypercalcemia caused by other diseases to avoid any unnecessary surgical or medical intervention.
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Background Advances in pump technology and the availability of insulin analogs, as well as the results of the Diabetes Control and Complications Trial (DCCT), which established the benefit of improved glycemic control, have all contributed to the increased use of insulin pump therapy in recent years, particularly in children. Purpose This research aims to compare the impact of insulin delivery method, i.e., continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI) on glycemic control and the rate of diabetic ketoacidosis (DKA) among children with type 1 diabetes mellitus in Al Ahsa, Saudi Arabia. Methods A retrospective cohort study was carried out in a diabetic center in Al Ahsa, Saudi Arabia, over 24 months (2020-2022) among children with type I diabetes mellitus (age group 1-14 years). Results In total, 351 patients with diabetes were induced, with 316 (90%) on MDI and 35 (10%) on CSII. After six months of diagnosis, precisely 38 (12%) of patients with diabetes on the MDI regimen experienced DKA, compared to 4 (11.4%) of those on the CSII regimen, with no statistically significant difference (P=0.918). At six months and nine months of follow-up, the average hemoglobin A1c (HbA1c) was considerably higher in diabetic patients on MDI (8.9 ± 1.7% vs. 8.2 ± 1.5% and 9.1 ± 1.6% vs. 8.0 ± 1.3%, respectively, with a significant p-value ≤0.05). Conclusion In this study, we found that patients on the MDI regimen had considerably higher HbA1c levels than patients on the CSII regimen, but there was no statistically significant difference in DKA rates between them. This is a short-term follow-up study, and we recommend that patients be followed for a longer period of time for further accurate outcomes.
RESUMEN
Microcephalic primordial dwarfism is a group of disorders that result in growth restriction and multiple morbidities. The condition is subdivided into three categories, with microcephalic osteodysplastic primordial dwarfism type II (MOPDII) being the most prevalent. Globally, only a few cases have been reported, with only available information about these disorders described in the literature. In this case report, we present the clinical findings seen in an infant with MOPDII in Saudi Arabia with associated glucose-6-phosphate dehydrogenase deficiency hemolytic anemia.
