Ciliopathies, or hereditary defects of primary (nonmotile) cilia, cause a wide range of overlapping syndromes that include fibrocystic diseases of the kidney and liver as well as disparate abnormalities of other organ systems.

From the Radiologic Pathology Archives: Pediatric Polycystic Kidney Disease and Other Ciliopathies: Radiologic-Pathologic Correlation

Human cilia were once thought merely to be important in respiratory mucociliary clearance, with primary ciliary dyskinesia (PCD) the sole manifestation of ciliary dysfunction. There are now known to be three types of cilia: primary, nodal and motile. Cilia are complex, likely involving more than 1000 gene products; in this review, recent advances in PCD genetics, and the potential relationships with genes causing other ciliopathies, are discussed. PCD is the most important respiratory disease, characterized by upper and lower airway infection and inflammation and disorders of laterality. Ciliary gene mutations are now known to cause single organ disease, as well as complex syndromes. The focus of the review is primarily PCD, in the context of the expanding ciliopathy spectrum. The authors consider the clinical situations in which ciliary disease should be considered, and the implications for specialist respiratory practice.

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy

Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is a rare genetic disorder characterized by a small, narrow thorax, with associated shortening of limbs. Children with JS present with variable degrees of respiratory distress, frequently lethal in the neonatal period. Other associated complications include renal, hepatic, gastrointestinal, and retinal dysfunction. Management focuses on stabilization and support of respiratory function. Treatment may be palliative in nature or corrective. In recent years, the advance in surgical treatment of the thoracic hypoplasia in JS offers hope to those families with a child suffering from the syndrome. Even with increased research into treatment of this disorder, prognosis is usually poor. Comorbidities associated with JS lead to serious organ dysfunction in later years. Families who have a child with JS need genetic counseling and education focusing on the seriousness of the disorder, the risks and benefits of treatment, and the lifelong needs of those with JS.

Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.

espanolLa distrofia toracica asfixiante, o sindrome de Jeune, es una displasia osea de herencia autosomica recesiva, con expresion fenotipica variable. El diagnostico es fundamentalmente clinico y radiologico. Se caracteriza por la presencia de un torax estrecho y acampanado, polidactilia, costillas horizontalizadas y huesos iliacos cortos, con una alteracion tipica del techo acetabular en tridente, y suele asociar otras complicaciones: nefrocalcinosis, hepatopatia colestasica, anomalias pancreaticas y retinianas. La distrofia toracica produce hipoplasia pulmonar secundaria e insuficiencia respiratoria restrictiva que puede ser mortal en etapas precoces de la vida. Aunque la existencia de malformaciones espinales no es un hallazgo frecuente, en este caso, el paciente presentaba una malformacion de C1 que producia compresion medular. Se realizo una descompresion quirurgica y, posteriormente, la evolucion del paciente ha sido muy favorable. Concluimos que debe realizarse siempre el cribado de malformaciones espinales en pacientes afectados de este sindrome, ya que su tratamiento puede contribuir significativamente a mejorar su pronostico y calidad de vida. EnglishAsphyxiating thoracic dystrophy-Jeune syndrome is an autosomal recessive disease. It is part of a group of skeletal dysplasias with great clinical variability. Diagnosis is based on clinical and radiographic findings: the syndrome is characterized by a small, narrow chest, variable limb shortness, postaxial polydactyl, horizontally oriented ribs, and short iliac bones with a typical trident appearance of the acetabula. Renal, hepatic, pancreatic and ocular complications may occur later in life. As result of the thoracic dystrophy a lung hypoplasia is produced and a lethal respiratory distress during neonatal and infancy period may occur as well as multiple respiratory infections. Despite spine malformations are not frequently associated, we present a patient who had C1 malformation with cord compression. Surgical cord decompression was done and probably was determinant in his course. We concluded that the screening of spinal malformation in these patients should be always done because it treatment could improve their prognosis and quality of life.

Distrofia torácica asfixiante, o síndrome de Jeune, asociada a una malformación espinal cervical

We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy.

Ciliopathy spectrum expanded? Jeune syndrome associated with foregut dysmotility and malrotation.

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Ciliopathy spectrum expanded? Jeune syndrome associated with foregut dysmotility and malrotation.