Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hurler's disease, also known as mucopolysaccharidoses 1H, an autosomal recessive disease due to enzyme alpha-iduronidase deficiency has generally a spectrum of findings involving the eye, skeletal abnormality, organomegaly, joint stiffness, hernia, mental retardation and cardiovascular abnormalities. The two cases presented here are related to each other as brother of 9 years age and sister of 7 years of age with their parents had consanguineous marriage. On ocular examination in both the cases there was dense bilateral corneal opacities. Glycosaminoglycan's level was found to be 4 mg/mmol cr in the first case and 5 mg/mmol cr in the second case. In the first case no ocular treatment was planned and in the second case penetrating keratoplasty was the choice of management.
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PMID:Hurler's disease. 1636 93

A 7-year-old boy presented with umbilical hernia and short stature. Growth retardation, recurrent upper respiratory tract infections and delayed developmental milestones were present from infancy. Umbilical hernia was diagnosed at the age of 5 years. On examination, he had short-trunk dwarfism, large head circumference, coarse facial features, joint stiffness, hepatosplenomegaly, and mild mental retardation. He had normal biochemical parameters, thyroid function tests and arterial blood gas analysis. Radiological evaluation showed that the child had Hunter syndrome with findings of J-shaped sellaturcica, proximal bulleting of metacarpals, spatulated ribs and anterior beaking of lumbar vertebrae. The second case was a 6-year-old girl with umbilical hernia, short stature, normal biochemistry and radiological findings of mucopolysaccharidosis. However, she also had corneal opacity; confirmed by slit-lamp examination, which led to the diagnosis of Hurler-Scheie syndrome. Enzymatic studies could not be done in both the cases, as they are not available at most centers.
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PMID:Short stature with umbilical hernia - Not always due to cretinism: A report of two cases. 2262 20

Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydrolase a-L-Iduronidase leading to accumulation of the GAGs, dermatan sulfate, and heparan sulphate, The disease spectrum includes a disorder with severe involvement and CNS disease Hurler disease (HPS I H) a chronic disease without CNS disease Scheie disease (HPS I S5) and the intermediate Hurler/Scheie disease(HPS I HIS).The urine GAGs pattern. confirmed by Iduronidase enzyme assay is diagnostic. Over 200 mutations exist. Genotype / phenotype correlation is poor but two nonsense mutations results in Hurler disease.The skeletal disease dysostosis multiplex (DM) is seen in severe variants of MPS I. The hypoplastic odontoid putting these patients at high risk of cervical cord damage. MPS IH (Hurler Disease) affected infants develop a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and frequent upper respiratory infection. They have "coarse", facial features, and an enlarged tongue. . Progressive upper airway disease leads to obstructive sleep apnoea. Corneal clouding and cognitive impairment appears, growth ceases. Joint stiffness and contractures limit mobility. Cardiac disease is universal. Death occurs before 10 years. SCHEIE patients are diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding . Prolonged survival with considerable disability without cognitive impairment is usual. MPS IH/S Hurler/Scheie. is diagnosed by 6.5 years, with variable skeletal and visceral manifestations without cognitive involvement. Joint stiffness, corneal clouding, , umbilical hernia, abnormal facies, hepatomegaly, joint contractures, and cervical myelopathy occur. Patients die in their 20s .Haematopoietic stem cell transplantation (HSCT) the standard treatment of MPS IH for 30 years is unpredictable .When performed before 2 years it can stabilize cognitive impairment. Hepatosplenomegaly, urine GAGs excretion, upper airways obstruction and cardiomyopathy improve . The coarse hair and facial features soften and corneas partly clear,but dysostosis multiplex and cervical instability are not improved. Enzyme replacement therapy (ERT) in patients with MPS IH is associated with improved GAG excretion, left ventricular hypertrophy,sleep studies and liver size. The standard treatment of MPS IHIS and MIPS IS is ERT a-L-Iduronidase, laronidase, a life-long therapy. GAG excretion is reduced, respiratory function and physical endurance improve. Joint mobility improves but not dural thickening, cardiac valve lesions or eye changes. MPS I mice have been successfully treated with IDUA-expressing mesenchymaf stem cells . Gene therapy may be developed for MPS I, via an ex vivo approach demonstrated to improve even skeletal outcomes in animal models.
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PMID:Mucopolysaccharidosis type I. 2534 91