Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The association of a spondyloepiphyseal dysplasia tarda (SED-T) with the nephrotic syndrome (NS) was found in three siblings. They have counsaguineous (first cousins) healthy parents. Patient 1 was a boy who was admitted to hospital for oedema at the age of 8 years; NS was diagnosed, renal biopsy revealed mesangioproliferative glomerulonephritis. After 4 years he developed end-stage renal failure and died whilst on haemodialysis. Combined therapy with cyclophosphamide and prednisone was of no benefit. At the age of 11 years his height was 122 cm (< 3rd percentile -3.2 SD); he had a short neck, broad and prominent chest and a short wide trunk. Patient 2, another male, had non-nephrotic proteinuria in a 24-h urinary sample at the age of 11 years; this was confirmed in a later analysis; mild lymphopenia and a reduction of helper T cell (OKT4)/suppressor T cell (OKT8) ratio was also detected. At 22 years of age he was admitted to hospital with end-stage renal failure. He was on haemodialysis for a few months until his mother donated a kidney. At the age of 22 years his height was 157 cm (< 3rd percentile), he had a short trunk with the thoracic cage increased in anteroposterior diameter and shoulder elevation. Roentgenograms revealed a disostosis of the spinal column and pelvis and a slight lombar platyspondylia. Patient 3, a girl, was admitted to hospital at 12.5 years for pain and restricted mobility of the right hip. X-rays showed deep acetabula and short femoral necks and mild dysplastic changes, especially in the right hip.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings. 774 15

We report a case of spondyloepiphyseal dysplasia congenita (SED congenita), diagnosed at autopsy of a term infant. Prenatal ultrasound at 20 weeks of gestation had shown shortening of all the fetal long bones, with bowing of the femora and humeri, clubfeet, and small thoracic cage. We discuss the diagnostic features of SED and the main differential diagnoses.
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PMID:Spondyloepiphyseal dysplasia congenita. 2005 64

Patients with mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) have accumulation of the glycosaminoglycans, keratan sulfate, and chondroitin-6-sulfate, in bone and cartilage, causing systemic spondyloepiphyseal dysplasia. Features include lumbar gibbus, pectus carinatum, faring of the rib cage, marked short stature, cervical instability and stenosis, kyphoscoliosis, genu valgum, and laxity of joints. Generally, MPS IVA patients are wheelchair-bound as teenagers and do not survive beyond the second or third decade of life as a result of severe bone dysplasia, causing restrictive lung disease and airway narrowing, increasing potential for pneumonia and apnea; stenosis and instability of the upper cervical region; high risk during anesthesia administration due to narrowed airway as well as thoracoabdominal dysfunction; and surgical complications. Patients often need multiple surgical procedures, including cervical decompression and fusion, hip reconstruction and replacement, and femoral or tibial osteotomy, throughout their lifetime. Current measures to intervene in disease progression are largely palliative, and improved therapies are urgently needed. A clinical trial for enzyme replacement therapy (ERT) and an investigational trial for hematopoietic stem cell transplantation (HSCT) are underway. Whether sufficient enzyme will be delivered effectively to bone, especially cartilage (avascular region) to prevent the devastating skeletal dysplasias remains unclear. This review provides an overview of historical aspects of studies on MPS IVA, including clinical manifestations and pathogenesis of MPS IVA, orthopedic surgical interventions, and anesthetic care. It also describes perspectives on potential ERT, HSCT, and gene therapy.
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PMID:Current and emerging treatments and surgical interventions for Morquio A syndrome: a review. 2483 94