Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.
J Pediatr Endocrinol Metab
; 36(2): 152-157, 2023 Feb 23.
Article
en En
| MEDLINE
| ID: mdl-36524979
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Raquitismo
/
Raquitismo Hipofosfatémico Familiar
/
Raquitismo Hipofosfatémico
Tipo de estudio:
Diagnostic_studies
Límite:
Child
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Child, preschool
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Female
/
Humans
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Infant
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Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Pakistán