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A family with Jeune syndrome
F Ozçay1, M Derbent, B Demirhan
1Department of Pediatrics, Başkent University, Faculty of Medicine, Ankara, Turkey.
Insights
Jeune syndrome, a rare genetic disorder causing skeletal deformities and dwarfism, presents with varied symptoms, including kidney failure. This study highlights the syndrome's clinical heterogeneity and renal involvement in affected families.
Area of Science:
- Genetics
- Pediatrics
- Nephrology
Background:
- Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal disorder.
- It is characterized by a narrow thoracic cage, short-limbed dwarfism, and often leads to early childhood mortality due to pulmonary hypoplasia.
Observation:
- This report details a family with clinically heterogeneous manifestations of Jeune syndrome.
- The proband, a 6-year-old male, presented with skeletal deformities and chronic renal failure attributed to nephronophthisis.
- Retrospective analysis identified Jeune syndrome in his sister who died of renal failure, and noted thoracic deformity in another sibling.
Findings:
- The family's presentation demonstrates significant clinical variability within Jeune syndrome.
- Nephronophthisis was confirmed as the cause of renal insufficiency in the proband.
- Affected family members exhibited a spectrum of symptoms, including thoracic deformity, short stature, and brachydactyly, with varying degrees of renal and cardiovascular health.
Implications:
- These findings underscore the importance of recognizing the clinical heterogeneity of Jeune syndrome.
- The study highlights a strong association between Jeune syndrome and renal disease, particularly nephronophthisis.
- This emphasizes the need for comprehensive evaluation, including renal function assessment, in individuals with suspected Jeune syndrome.
Abstract:
Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short-limbed dwarfism. Seventy percent of affected individuals die in early childhood from pulmonary hypoplasia and respiratory distress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. We report a family that exhibited clinically heterogeneous features of Jeune syndrome. The 6-year-old male proband presented with skeletal deformities and chronic renal failure. A kidney biopsy revealed that nephronophthisis was the cause of the patient's kidney failure, and we diagnosed Jeune syndrome. A retrospective diagnosis of Jeune syndrome was also established for the proband's older sister, who had died of renal failure at 8 years of age. The oldest female child in the family also had thoracic deformity, and the father and paternal uncle were both of short stature and exhibited brachydactyly. Their renal function and blood pressure were normal. The findings in this family are important in that they demonstrate the clinical heterogeneity of Jeune syndrome and underline the association of renal disease with this syndrome.