Congenital Insensitivity to Pain with Anhidrosis (NTRK1 Mutation) and Early Onset Renal Disease: Clinical Report on Three Sibs with a 25-Year Follow-Up in One of Them
| Autor: | Anastasi M, Laurence Lempereur, E Parano, Piero Pavone, Rita Barone |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Pain Insensitivity Congenital DNA Mutational Analysis CD5 Antigens Gastroenterology Nephropathy Congenital insensitivity to pain with anhidrosis Internal medicine medicine Humans Longitudinal Studies Receptor trkA Anhidrosis Microhematuria Child Hypohidrosis B-Lymphocytes Lupus anticoagulant medicine.diagnostic_test business.industry Siblings General Medicine medicine.disease medicine.icd_9_cm_classification Endocrinology Immunoglobulin G Mutation Pediatrics Perinatology and Child Health Chronic inflammatory response Female Neurology (clinical) Renal biopsy medicine.symptom business Kidney disease |
| Zdroj: | Neuropediatrics (2005). info:cnr-pdr/source/autori:Barone R, Lempereur L, Anastasi M, Parano E, Pavone P./titolo:Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them/doi:/rivista:Neuropediatrics/anno:2005/pagina_da:/pagina_a:/intervallo_pagine:/volume |
| ISSN: | 1439-1899 0174-304X |
| DOI: | 10.1055/s-2005-872808 |
| Popis: | Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene which encodes the receptor for nerve growth factor (NGF). We report the clinical course in three sibs with CIPA and proven NTRK1 gene mutations with a follow-up over a 25-year period in one of them. They had the characteristic clinical features of an abnormally high pain threshold, and mental retardation; in addition their clinical course was marked by the occurrence of early onset renal disease with recurrent microhematuria and proteinuria and frequent observations of increased serum creatinine and blood urea levels. Light microscopy study of a renal biopsy performed in one of them at age of 20 months showed focal glomerulosclerosis, interstitial fibrosis and tubular atrophy. This patient and his younger brother died because of renal failure at the age of 25 years and 14 years, respectively. The sister still alive showed renal impairment and deep venous thrombosis associated with lupus anticoagulant activity, decrease of circulating autoreactive CD5 (+) B lymphocytes and increased urinary levels of IgG and kappa and lambda light chains, suggesting a possible defect in regulation of B-lymphocyte function. In the light of the NGF-related molecular defect, the extraneurological tissue involvement in CIPA might in part reflect dysregulation of immune mechanisms which possibly brings about a chronic inflammatory response. This, in turn, could result in renal disease which should be mentioned among the life-threatening complications associated with this disorder. |
| Databáze: | OpenAIRE |
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