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Familial hypophosphataemic rickets affecting a father and his two daughters: a case report
C O Ekpebegh1, E Blanco-Blanco
1Department of Medicine, Walter Sisulu University/Nelson Mandela Academic Hospital, Mthatha, South Africa. chuksekpebegh@yahoo.com
Insights
Hypophosphataemic rickets (HR) presents with short stature and limb deformities. Diagnosis in adults may show normal alkaline phosphatase, highlighting the need for clinical suspicion in diverse age groups.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Hypophosphataemic rickets (HR) is a rare genetic disorder.
- It is a significant cause of short stature and limb deformities in children.
Observation:
- This study investigated a family with three affected members: two siblings and their father.
- Clinical, laboratory, and radiological assessments were performed.
Findings:
- All three patients exhibited short stature, lower limb deformities, frontal bossing, and hypophosphatemia.
- Serum alkaline phosphatase (ALP) was significantly elevated in the children but only minimally in the father.
- X-linked dominant inheritance was suspected in the daughters, while spontaneous mutation was considered for the father.
Implications:
- HR should be considered in the differential diagnosis of short stature and limb deformities, even without a clear family history.
- Elevated serum ALP may not be a consistent finding in adult-onset HR, emphasizing clinical evaluation.
Background:
Hypophosphataemic rickets (HR) is a rare cause of short stature associated with limb deformities.
Objective:
To report the clinical and laboratory features of HR in two siblings and their father.
Methods:
Following the diagnosis of HR in a 4-year-old girl, her siblings and parents were screened using clinical, laboratory, and radiological parameters.
Results:
Short stature, lower limb deformities, frontal bossing and hypophosphataemia were present in all three patients. Serum alkaline phosphatase (ALP) was markedly elevated in both siblings who were aged two and 11 years but only minimally raised in their 43-year-old father. While spontaneous mutation is the presumed aetiology in the father, X linked dominant inheritance is the likely cause in both daughters.
Conclusions:
Hypophosphataemic rickets should be considered in the differential diagnosis of short stature associated with limb deformities regardless of a family history of HR. Serum ALP may not be remarkably elevated when the diagnosis is made in adulthood.
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