Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
-
Hanna Borysewicz-Sańczyk
,
Beata Sawicka
Abstract
Objectives
Hypoparathyroidism is a rare disease in children that occurs as a result of autoimmune destruction of the parathyroid glands, a defect in parathyroid gland development or secondary to physical parathyroid gland disturbance. Typical symptoms of hypoparathyroidism present as hypocalcaemia and hyperphosphatemia due to decreased parathyroid hormone secretion and may lead to nerve and muscles disturbances resulting in clinical manifestation of tetany, arrhythmias and epilepsy. Currently, there is no conventional hormone replacement treatment for hypoparathyroidism and therapeutic approaches include normalising mineral levels using an oral calcium supplement and active forms of vitamin D.
Case presentation
We present the case of a 10-year-old girl with primary hypoparathyroidism who had no prior history of autoimmune disorders, but who subsequently developed systemic lupus erythematosus.
Acknowledgments
The authors are grateful to Jadwiga Furmaniak, Sarah Black, Shu Chen and Bernard Rees Smith (FIRS Laboratories, RSR Ltd., Cardiff, UK) for performing autoantibody tests.
Research funding: None to declare.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved its submission.
Competing interests: No funding organisation played a role in the study design, the collection, analysis, and interpretation of data, the writing of the report or in the decision to submit the report for publication.
Informed consent: Informed consent was obtained from the parents of the patient for the preparation of this manuscript.
Ethical approval: Not applicable.
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Articles in the same Issue
- Frontmatter
- Original Articles
- Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
- Reference intervals for thyroid-stimulating hormone (TSH) and free thyroxine (FT4) in infants’ day 14–30 of life and a comparison with other studies
- Importance of thyroid-stimulating hormone levels in liver disease
- Assessment of thyroid gland vascularity with superb microvascular imaging in healthy children and its relationship with potential factors
- A retrospective analysis of congenital anomalies in congenital hypothyroidism
- Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
- Readiness for transition to adult care in adolescents and young adults with Turner syndrome
- A new type of pubertal height reference based on growth aligned for onset of pubertal growth
- Role of urinary NGAL and KIM-1 as biomarkers of early kidney injury in obese prepubertal children
- Self-assessed puberty is reliable in a low-income setting in rural Pakistan
- Timing and regimen of puberty induction in children with hypogonadism: a survey on the practice in Arab countries
- How useful are anthropometric measurements as predictive markers for elevated blood pressure in adolescents in different gender?
- Association between handgrip strength and cardiovascular risk factors among Korean adolescents
- Case Reports
- A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A
- Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
- Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
- Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
- Severe diabetic ketoacidosis and coronavirus disease 2019 (COVID-19) infection in a teenage patient with newly diagnosed diabetes
Articles in the same Issue
- Frontmatter
- Original Articles
- Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
- Reference intervals for thyroid-stimulating hormone (TSH) and free thyroxine (FT4) in infants’ day 14–30 of life and a comparison with other studies
- Importance of thyroid-stimulating hormone levels in liver disease
- Assessment of thyroid gland vascularity with superb microvascular imaging in healthy children and its relationship with potential factors
- A retrospective analysis of congenital anomalies in congenital hypothyroidism
- Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
- Readiness for transition to adult care in adolescents and young adults with Turner syndrome
- A new type of pubertal height reference based on growth aligned for onset of pubertal growth
- Role of urinary NGAL and KIM-1 as biomarkers of early kidney injury in obese prepubertal children
- Self-assessed puberty is reliable in a low-income setting in rural Pakistan
- Timing and regimen of puberty induction in children with hypogonadism: a survey on the practice in Arab countries
- How useful are anthropometric measurements as predictive markers for elevated blood pressure in adolescents in different gender?
- Association between handgrip strength and cardiovascular risk factors among Korean adolescents
- Case Reports
- A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A
- Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
- Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
- Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
- Severe diabetic ketoacidosis and coronavirus disease 2019 (COVID-19) infection in a teenage patient with newly diagnosed diabetes
