Öz
Familial heterozygous hypobetalipoproteinemia FHBL , ıs a hereditary disorder of the metabolism of apolipoprotein. Heterozygous and homozygous form is available. Heterozygous form, 1 / 500; homozygous form 1/1.000.000 often found. Symptoms of homozygous individuals can be deleted with age. Heterozygous individuals is usually asymptomatic. Heterozygous patients with low plasma total cholesterol levels and LDL-cholesterol levels of 50 mg / dl is equal to or lower than that. The result is impaired absorption of fats and fat-soluble vitamins and chronic diarrhea, growth retardation, and degenerative neurological diseases occur. These clinical findings are more in homozygous form. Seven-year-old girl with foul-smelling, frothy stools, was admitted to our outpatient clinic with complaints of gait and balance disorders. Physical examination of the patient deep tendon reflexes were absent. Laboratory examination of the apoB, total cholesterol, LDLcholesterol levels were lower. Patient diagnosed with heterozygous familial hipobetalipoproteinemia, normally encountered in determination of fat intolerance and neurological findings was remarkable. This is attributed to an autosomal codominant inheritance
Anahtar Kelimeler
familial heterozygous hypobetalipoproteinemia apolipoprotein cholesterol
Kaynakça
- Burnett JR, Proos AL, Koutts J, Burnett L. Familial hypobetalipoproteinemia: a rare presentation to the lipid elinie; Mcd J Aust; 1993; 159: 272-274.
- Munoz Torres M, Cano Romera A, Dominguez S, Cano Parra MD, Lobon JA, Escobar Jimenez F. Familial hypobetalipoproteinemia: description of a heterozygous form with important biochemical alterations. Rev Clin Esp 1991;188(2): 81-82.
- Mars H, Lewis LA, Robertson ALJ, Butkus A, Williams GHJ. Familial hypobetalipoproteinemia: a genetic disorder of lipid metabolism with nervous system involvement; Am J Med; 1969; 46: 886-900.
- Whitfi eld AJ, Marais AD, Robertson K, Barret PH, van Bockxmeer FM, Burnett JR. Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia. Hum Mutat 2003;22(2): 178.
- Yuan B, Neuman R, Duan SH, Weber JL, Kwok PY, Saccone NL, et al. Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1 22; Am J Hum Genet 2000; 66: 1699-1704.
- Neuman RJ, Yuan B, Gerhard DS, Liu KY, Yue P, Duan S, et al. Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds. J Lipid Res 2002; 43(3): 407-415
- Strich D, Goldstein R, Levy E, Gilai A, Kazuni A, Freier S. Familial hypobetalipoproteinemia with steatorrhea and malabsorption. Harefuah 1991;121(9): 286-90.
- Brusgaard K, Kjaersgaard L, Hansen AB, Husby S. New mutations in APOB100 involved in familial hypobetalipoproteinemia. J Clin Lipidol 2010; 4(3): 181-184.
- Alapont Puchalt B, Prosper Sierra M, Ricart Alvarez E, Navarro Hervas M. Hepatic steatosis associated with heterozygotic familial hypobetalipoproteinemia. Gastroenterol Hepatol. 2004 ;27(4): 256-9.
- Castellano G, Garfi a C, Gomez-Coronado D, Arenas J, Manzanares J, Colina F, Solis-Herruzo JA. Diff use fatty liver in familial heterozygous hypobetalipoproteinemia. J Clin Gastroenterol. 1997 ;25(1): 379-82.
- Rorna E, Klontza D, Kairis M, Pangalis A, Karpouzas J. Matsaniotis, N. Familial hypobetalipoproteinemia; HeIv Paediatr Acta; 1984;39: 145-151.
- Cottrill C, Glueek CJ, Leuba V, Millet F, Puppione D, Brown WV. Familial homozygous hypobetalipoproteinemia; Metabolism; 1974; 23: 779-791.
- Pulai JI, Neuman RJ, Groenewegen AW, Wu J, Sconfeld G. Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. Am J Med Genet 1998; 76: 79–86.
- Schonfeld G . The hypobetalipoproteinemias. Annu Rev Nutr 1995;15: 23–34.
- Levy E, Roy CC, Thibault L, Bonin A, Brochu P, Seidman EG. Variable expression of familial heterozygous hypobetalipoproteinemia: transient malabsorption during infancy; J Lipid Res 1994; 35: 2170-2177.
- Fosbrooke A, Choksey S, Wharton B. Familial hypobetalipoproteinemia. Arch Dis Child; 1973; 48: 729-732.
- Linton MF. Farese RV Jr, Young SG. Familial hypobetalipoproteinemia. J Lipid Res 1993 ; 34: 521-541.
- Mehta NN, Desai HG. Persistent transaminase elevation due to heterozygous (familial) apolipoprotein B defi ciency. Indian J Gastroenterol 1997;16(4): 158-159.
- Kairamkonda V, Dalzell M. Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia. Eur J Pediatr 2003;162(3): 129-131.
- Hooper AJ, Akinci B, Comlekci A, Burnett JR. Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. Clin Chim Acta 2008; 390: 152-155.
- Katsuda S, Kawashiri MA, Inazu A, Tada H, Tsuchida M, Kaneko Y, et al. Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia. Clin Chim Acta 2009; 399: 64-68.
Öz
Ailesel hipobetalipoproteinemi FHBL , kalıtsal apolipoprotein metabolizması bozukluğudur. Heterozigot ve homozigot formu mevcuttur. Heterozigot formuna 1/500 sıklıkta, homozigot formuna ise 1/1.000.000 sıklıkta rastlanır. Homozigot kişilerde başlayan semptomlar yaş ilerledikçe silinebilir. Heterozigot kişiler ise genelde asemptomatiktir. Heterozigot olgularda plazma total kolesterol düzeyleri düşüktür ve LDL-kolesterol düzeyleri 50 mg/dl’ye eşit veya daha düşüktür. Sonuçta yağların ve yağda eriyen vitaminlerin emilimi bozulur ve kronik diyare, gelişme geriliği ve dejeneratif nörolojik hastalık ortaya çıkar. Bu klinik bulgular daha çok homozigot formda görülmektedir. Yedi yaşında kız çocuğu pis kokulu, köpüklü dışkılama, yürüme ve denge bozukluğu şikayetleri ile polikliniğimize başvurdu. Olgunun fizik muayenesinde derin tendon refleksleri alınamadı. Laboratuar incelemesinde apoB, total kolesterol, LDL-kolesterol düzeyleri düşük saptandı. Heterozigot ailesel hipobetalipoproteinemi tanısı konan hastamızda normalde rastlanmayan yağ intoleransı ve nörolojik bulguların saptanması dikkat çekiciydi. Bu durum otozomal kodominant kalıtıma bağlandı
Anahtar Kelimeler
ailesel heterozigot hipobetalipoproteinemi apolipoprotein kolesterol
Kaynakça
- Burnett JR, Proos AL, Koutts J, Burnett L. Familial hypobetalipoproteinemia: a rare presentation to the lipid elinie; Mcd J Aust; 1993; 159: 272-274.
- Munoz Torres M, Cano Romera A, Dominguez S, Cano Parra MD, Lobon JA, Escobar Jimenez F. Familial hypobetalipoproteinemia: description of a heterozygous form with important biochemical alterations. Rev Clin Esp 1991;188(2): 81-82.
- Mars H, Lewis LA, Robertson ALJ, Butkus A, Williams GHJ. Familial hypobetalipoproteinemia: a genetic disorder of lipid metabolism with nervous system involvement; Am J Med; 1969; 46: 886-900.
- Whitfi eld AJ, Marais AD, Robertson K, Barret PH, van Bockxmeer FM, Burnett JR. Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia. Hum Mutat 2003;22(2): 178.
- Yuan B, Neuman R, Duan SH, Weber JL, Kwok PY, Saccone NL, et al. Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1 22; Am J Hum Genet 2000; 66: 1699-1704.
- Neuman RJ, Yuan B, Gerhard DS, Liu KY, Yue P, Duan S, et al. Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds. J Lipid Res 2002; 43(3): 407-415
- Strich D, Goldstein R, Levy E, Gilai A, Kazuni A, Freier S. Familial hypobetalipoproteinemia with steatorrhea and malabsorption. Harefuah 1991;121(9): 286-90.
- Brusgaard K, Kjaersgaard L, Hansen AB, Husby S. New mutations in APOB100 involved in familial hypobetalipoproteinemia. J Clin Lipidol 2010; 4(3): 181-184.
- Alapont Puchalt B, Prosper Sierra M, Ricart Alvarez E, Navarro Hervas M. Hepatic steatosis associated with heterozygotic familial hypobetalipoproteinemia. Gastroenterol Hepatol. 2004 ;27(4): 256-9.
- Castellano G, Garfi a C, Gomez-Coronado D, Arenas J, Manzanares J, Colina F, Solis-Herruzo JA. Diff use fatty liver in familial heterozygous hypobetalipoproteinemia. J Clin Gastroenterol. 1997 ;25(1): 379-82.
- Rorna E, Klontza D, Kairis M, Pangalis A, Karpouzas J. Matsaniotis, N. Familial hypobetalipoproteinemia; HeIv Paediatr Acta; 1984;39: 145-151.
- Cottrill C, Glueek CJ, Leuba V, Millet F, Puppione D, Brown WV. Familial homozygous hypobetalipoproteinemia; Metabolism; 1974; 23: 779-791.
- Pulai JI, Neuman RJ, Groenewegen AW, Wu J, Sconfeld G. Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. Am J Med Genet 1998; 76: 79–86.
- Schonfeld G . The hypobetalipoproteinemias. Annu Rev Nutr 1995;15: 23–34.
- Levy E, Roy CC, Thibault L, Bonin A, Brochu P, Seidman EG. Variable expression of familial heterozygous hypobetalipoproteinemia: transient malabsorption during infancy; J Lipid Res 1994; 35: 2170-2177.
- Fosbrooke A, Choksey S, Wharton B. Familial hypobetalipoproteinemia. Arch Dis Child; 1973; 48: 729-732.
- Linton MF. Farese RV Jr, Young SG. Familial hypobetalipoproteinemia. J Lipid Res 1993 ; 34: 521-541.
- Mehta NN, Desai HG. Persistent transaminase elevation due to heterozygous (familial) apolipoprotein B defi ciency. Indian J Gastroenterol 1997;16(4): 158-159.
- Kairamkonda V, Dalzell M. Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia. Eur J Pediatr 2003;162(3): 129-131.
- Hooper AJ, Akinci B, Comlekci A, Burnett JR. Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. Clin Chim Acta 2008; 390: 152-155.
- Katsuda S, Kawashiri MA, Inazu A, Tada H, Tsuchida M, Kaneko Y, et al. Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia. Clin Chim Acta 2009; 399: 64-68.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Haziran 2011 |
| Yayımlandığı Sayı | Yıl 2011Sayı: 2 |