Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D

被引：24

作者：

Shmukler, Boris E. ^{[1
,2
,3
]}

Kedar, Prabhakar S. ^{[1
,2
,3
,4
]}

Warang, Prashant ^{[4
]}

Desai, Mukesh ^{[5
]}

Madkaikar, Manisha ^{[4
]}

Ghosh, Kanjaksha ^{[4
]}

Colah, Roshan B. ^{[4
]}

Alper, Seth L. ^{[1
,2
,3
]}

机构：

[1] Beth Israel Deaconess Med Ctr, Div Renal, Boston, MA 02215 USA

[2] Beth Israel Deaconess Med Ctr, Mol & Vasc Med Unit, Boston, MA 02215 USA

[3] Harvard Univ, Sch Med, Dept Med, Boston, MA USA

[4] Indian Council Med Res, Natl Inst Immunohematol, Bombay 400012, Maharashtra, India

[5] BJ Wadia Childrens Hosp, Dept Hematol Oncol, Div Immunol, Mumbai, Maharashtra, India

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 2010年 / 85卷 / 10期

关键词：

ASIAN OVALOCYTOSIS; RED-CELLS; AE1; ANION-EXCHANGER-1; TRANSPORT; EXCHANGER; DOMINANT; CHILDREN; DOMAIN; FAMILY;

D O I：

10.1002/ajh.21836

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl /HCO3- exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, and the Philipines, but not India. The dRTA mutation AE1 A858D has been detected only in the context of compound heterozygosity. We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site that is validated for diagnostic screening.

引用

页码：824 / 828

页数：5

共 18 条

[1] Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells [J].

Bruce, LJ ;

Wrong, O ;

Toye, AM ;

Young, MT ;

Ogle, G ;

Ismail, Z ;

Sinha, AK ;

McMaster, P ;

Hwaihwanje, I ;

Nash, GB ;

Hart, S ;

Lavu, E ;

Palmer, R ;

Othman, A ;

Unwin, RJ ;

Tanner, MJA .

BIOCHEMICAL JOURNAL, 2000, 350 :41-51

[2] Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1 [J].

Bruce, LJ ;

Robinson, HC ;

Guizouarn, H ;

Borgese, F ;

Harrison, P ;

King, MJ ;

Goede, JS ;

Coles, SE ;

Gore, DM ;

Lutz, HU ;

Ficarella, R ;

Layton, DM ;

Iolascon, A ;

Ellory, JC ;

Stewart, GW .

NATURE GENETICS, 2005, 37 (11) :1258-1263

[3] Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells [J].

Cordat, E ;

Kittanakom, S ;

Yenchitsomanus, PT ;

Li, J ;

Du, K ;

Lukacs, GL ;

Reithmeier, RAF .

TRAFFIC, 2006, 7 (02) :117-128

[4] Topology of the membrane domain of human erythrocyte anion exchange protein, AE1 [J].

Fujinaga, J ;

Tang, XB ;

Casey, JR .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (10) :6626-6633

[5] Experience with eosin-5′-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders [J].

Kedar, PS ;

Colah, RB ;

Kulkarni, S ;

Ghosh, K ;

Mohanty, D .

CLINICAL AND LABORATORY HAEMATOLOGY, 2003, 25 (06) :373-376

[6] Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies [J].

Khositseth, Sookkasem ;

Sirikanaerat, Apiwan ;

Khoprasert, Siri ;

Opastirakul, Sauwalak ;

Kingwatanakul, Pornchai ;

Thongnoppakhun, Wanna ;

Yenchitsomanus, Pa-thai .

AMERICAN JOURNAL OF HEMATOLOGY, 2008, 83 (06) :465-471

[7] Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand [J].

Khositseth, Sookkasem ;

Sirikanerat, Apiwan ;

Wongbenjarat, Kulruedee ;

Opastirakul, Sauwalak ;

Khoprasert, Siri ;

Peuksungnern, Ratikorn ;

Wattanasirichaigoon, Duangrurdee ;

Thongnoppakhun, Wanna ;

Viprakasit, Vip ;

Yenchitsomanus, Pa-Thai .

AMERICAN JOURNAL OF KIDNEY DISEASES, 2007, 49 (06) :841-850

[8] Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis [J].

Kittanakom, Saranya ;

Cordat, Emmanuelle ;

Reithmeier, Reinhart A. F. .

BIOCHEMICAL JOURNAL, 2008, 410 (271-281) :271-281

[9]

Kurschat CE, 2008, MOL GENETIC BASIS RE, P269

[10] Etiology of nephrocalcinosis in northern Indian children [J].

Mantan, Mukta ;

Bagga, Arvind ;

Virdi, Virenderjeet Singh ;

Menon, Shina ;

Hari, Pankaj .

PEDIATRIC NEPHROLOGY, 2007, 22 (06) :829-833

← 1 2 →