Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome
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Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and selfmutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.
Abstract
Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and selfmutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.
참고문헌 (18)
- Swanson AG, "Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings", Arch Neurol, 8, pp.299~306 (1963)
- Sarasola E, "A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis", BMC Med Genet, 12, pp.86~ (2011)
- Azadvari M, "Hereditary sensory and autonomic neuropathy type IV in 9 year old boy : a case report", Iran J Child Neurol, 10, pp.83~85 (2016)
- Jeong Kee Seo, "Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis", Pediatric Gastroenterology, Hepatology & Nutrition, 15(4), pp.197~209 (2012), 대한소아소화기영양학회
- Socha P, "Wilson's disease in children : a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition", J Pediatr Gastroenterol Nutr, 66, pp.334~344 (2018)
- Nuttall KL, "Reference limits for copper and iron in liver biopsies", Ann Clin Lab Sci, 33, pp.443~450 (2003)
- Patil M, "A review and current perspective on Wilson disease", J Clin Exp Hepatol, 3, pp.321~336 (2013)
- Gitelman HJ, "A new familial disorder characterized by hypokalemia and hypomagnesemia", Trans Assoc Am Physicians, 79, pp.221~235 (1966)
- 이재욱, "Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome", Journal of Korean Medical Science, 31(1), pp.47~54 (2016), 대한의학회
- Simon DB, "Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter", Nat Genet, 12, pp.24~30 (1996)
- Matsuo M, "Congenital insensitivity to pain with anhidrosis in a 2-month-old boy", Neurology, 31, pp.1190~1192 (1981)
- Kim JS, "Congenital insensitivity to pain with anhidrosis : a case report", J Korean Med Sci, 14, pp.460~464 (1999)
- Levy Erez D, "Assessment of cognitive and adaptive behaviour among individuals with congenital insensitivity to pain and anhidrosis", Dev Med Child Neurol, 52, pp.559~562 (2010)
- Schulman H, "Congenital insensitivity to pain with anhidrosis(CIPA) : the spectrum of radiological findings", Pediatr Radiol, 31, pp.701~705 (2001)
- Rosemberg S, "Congenital insensitivity to pain with anhidrosis(hereditary sensory and autonomic neuropathy type IV)", Pediatr Neurol, 11, pp.50~56 (1994)
- Theodorou SD, "Congenital insensitivity to pain with anhidrosis. Report of a case and review of the literature", Acta Orthop Belg, 66, pp.137~145 (2000)
- Indo Y, "Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor", Clin Auton Res, 12(Suppl 1), pp.20~32 (2002)
- Ferenci P, "Diagnosis and phenotypic classification of Wilson disease", Liver Int, 23, pp.139~142 (2003)