Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries
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Sommayya Aftab
,
Sabeen Abid Khan
,
Munir Iqbal Malik
Abstract
Objectives
Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of CYP27B1. It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic testing. This study was aimed to determine the clinical spectrum and diagnostic challenges of VDDR1A due to CYP27B1 mutation in developing countries.
Methods
Retrospective review of all cases of VDDR1A due to CYP27B1 mutation over a period of two years presenting in the Pediatric Endocrine clinic of Hameed Latif Hospital, Lahore, Pakistan.
Results
Six cases of VDDR1A (4 males) were identified. Mean age of clinical manifestation was 14 (9–24) months. Mean age of presentation to endocrine department was 5.5 (1.5–11.8) years. Growth failure and bony deformities were the most common presentation (n=6), followed by repeated diarrheas and abdominal distension (n=3) and recurrent fractures (n=1). All cases shared same biochemical profile of low/normal calcium, hypophosphatemia, raised alkaline phosphatase, raised PTH, normal/high 25(OH)D and tubular reabsorption of phosphate (TRP) <85%. Patients treated with calcitriol showed rapid healing as compared to those treated with 1-alfacalcidol.
Conclusions
We should have a high index of suspicion of VDDR1A in rickets not responding to cholecalciferol therapy.
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Research funding: None received.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The Institutional Review Board approved the study.
References
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© 2022 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review
- One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents
- Original Articles
- Safety and user experience with off-label use of a flash glucose monitor (FreeStyle Libre® 1) among very young children with type 1 diabetes mellitus
- Sonic hedgehog N-terminal level correlates with adiponectin level and insulin resistance in adolescents
- Elevated amylase and lipase levels in patients with DKA followed in the pediatric intensive care unit
- The relationship between alexithymia, health literacy, and diet quality in obese adolescents
- The role of the deficiency of vitamin B12 and folic acid on homocysteinemia in children with Turner syndrome
- Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries
- Comparative characteristics of developing morphofunctional features of schoolchildren from different climatic and geographical regions
- Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis
- Outcomes of children with severe diabetic ketoacidosis managed outside of a pediatric intensive care unit
- Thiamine status during treatment of diabetic ketoacidosis in children – tertiary care centre experience
- Premature adrenarche in Prader–Willi syndrome is associated with accelerated pre-pubertal growth and advanced bone age
- Short Communication
- Diagnosis of adrenal insufficiency in children: a survey among pediatric endocrinologists in North America
- Case Reports
- Pediatric growth hormone and prolactin-secreting tumor associated with an AIP mutation and a MEN1 variant of uncertain significance
- Two cases of MEGDHEL syndrome diagnosed with hyperammonemia
- Hyperinsulinism–hyperammonemia syndrome in two Peruvian children with refractory epilepsy
- A case report of a young boy with low renin and high aldosterone levels induced by Liddle syndrome who was previously misdiagnosed with primary aldosteronism
- Adolescents with type 1 diabetes vs. hybrid closed loop systems: a case series of patients’ behaviour that challenges the algorithm.
Articles in the same Issue
- Frontmatter
- Review
- One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents
- Original Articles
- Safety and user experience with off-label use of a flash glucose monitor (FreeStyle Libre® 1) among very young children with type 1 diabetes mellitus
- Sonic hedgehog N-terminal level correlates with adiponectin level and insulin resistance in adolescents
- Elevated amylase and lipase levels in patients with DKA followed in the pediatric intensive care unit
- The relationship between alexithymia, health literacy, and diet quality in obese adolescents
- The role of the deficiency of vitamin B12 and folic acid on homocysteinemia in children with Turner syndrome
- Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries
- Comparative characteristics of developing morphofunctional features of schoolchildren from different climatic and geographical regions
- Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis
- Outcomes of children with severe diabetic ketoacidosis managed outside of a pediatric intensive care unit
- Thiamine status during treatment of diabetic ketoacidosis in children – tertiary care centre experience
- Premature adrenarche in Prader–Willi syndrome is associated with accelerated pre-pubertal growth and advanced bone age
- Short Communication
- Diagnosis of adrenal insufficiency in children: a survey among pediatric endocrinologists in North America
- Case Reports
- Pediatric growth hormone and prolactin-secreting tumor associated with an AIP mutation and a MEN1 variant of uncertain significance
- Two cases of MEGDHEL syndrome diagnosed with hyperammonemia
- Hyperinsulinism–hyperammonemia syndrome in two Peruvian children with refractory epilepsy
- A case report of a young boy with low renin and high aldosterone levels induced by Liddle syndrome who was previously misdiagnosed with primary aldosteronism
- Adolescents with type 1 diabetes vs. hybrid closed loop systems: a case series of patients’ behaviour that challenges the algorithm.
