Rationale:Calcium-sensing receptor (CaSR) mutations can cause life-threatening neonatal severe hyperparathyroidism (NSHPT). The medical management of NSHPT is often challenging and complex. Here, we present a case of NSHPT caused by a novel homozygous CaSR mutation.Patient concerns:A Chinese female infant presented with poor feeding, constipation, severe hypotonia, and periodic bradycardia. Biochemistry tests revealed markedly elevated serum levels of Ca2+ and parathyroid hormone (PTH).Diagnoses:Genetic sequencing revealed a previously undescribed CaSR mutation in exon 3 (c.242T>A; p.I81K). A diagnosis of NSHPT secondary to homozygously inherited familial hypocalciuric hypercalcemia syndrome was established.Interventions:Cinacalcet was administered after the common treatments (low-calcium intake, hydration, and furosemide), calcitonin, and pamidronate therapy all failed.Outcomes:Serum Ca2+ decreased and stabilized with cinacalcet therapy. During a 10-month follow-up, total calcium was maintained within the high-normal range and PTH was normalized.Lessons:A trial of cinacalcet therapy might be undertaken in cases of NSHPT while definitive results of the genetic analysis are awaited.
Background:Our previous studies found that intestinal barrier function has been changed in children with abdominal Henoch–Schonlein purpura (HSP). Montmorillonite has been shown to be protective for digestive tract mucosa.Objective:The present study aimed to investigate whether Montmorillonite powder could improve the intestinal mucosal barrier function in children with abdominal HSP.Methods:Using a randomized controlled study design, we compared plasma levels of diamine oxidase (DAO), d-lactate, and endotoxin in children with abdominal HSP before and after Montmorillonite powder treatment.Results:Among 28 patients in experimental group and 30 in control group, there was no significant difference in age, sex, height, weight, and course of disease between 2 groups (P > .05). Before treatment, there was no statistical difference in DAO, d-lactic acid, and endotoxin between experimental group and the control group (P > .05). However, significant differences were detected for DAO and d-lactate after treatment in comparison to before treatment in the Montmorillonite experimental group (P < .05). Such differences were not found in the control group (P > .05).Conclusion:Montmorillonite powder is effective in the treatment of HSP via maintaining intestinal mucosal barrier function.
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