|
|
 Previous Article | Table of Contents | Next Article 
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions
and macrothrombocytopenia
LC Peterson, KV Rao, JT Crosson and JG White
This study reports a family comprising four generations in whom nephritis,
deafness, congenital cataracts, macrothrombocytopenia, and leukocyte
inclusions were observed in varying combinations in eight of 17 members.
The family differs from others reported in that their hematologic
abnormalities include not only macrothrombocytopenia, but also small, pale
blue cytoplasmic inclusions in the neutrophils and eosinophils. Light
microscopic appearance of the inclusions resembled that of toxic Dohle
bodies and inclusions of May-Hegglin anomaly, but their ultrastructural
appearance was unique. The inclusions consisted of clusters of ribosomes
and small segments of rough endoplasmic reticulum (RER). They lacked the
parallel 10-nm filaments characteristic of May-Hegglin anomaly and the
parallel strands of RER seen in toxic Dohle bodies. Platelets were large,
but their light and ultrastructural appearance was not significantly
different from normal platelets. Platelet aggregation in response to
epinephrine, arachidonate, thrombin, adenosine diphosphate, collagen, and
ristocetin was normal. Levels of nucleotides and serotonin were elevated in
proportion to cell volume. The concentration of adenosine triphosphate
secreted and the percentage of arachidonic acid converted to thromboxane B2
were proportional to cell number. Deafness was high-tone sensorineural.
Renal disease ranged from microscopic hematuria to end- stage renal failure
necessitating dialysis and kidney transplantation. All affected adults had
cataracts. This family represents a variant of Alport's syndrome with
cataracts and leukocyte inclusions that, because of the associated
macrothrombocytopenia, may be confused with May- Hegglin anomaly.
Volume 65,
Issue 2,
pp. 397-406,
02/01/1985
Copyright © 1985 by The American Society of Hematology
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
V. Rodriguez, W. L. Nichols, J. E. Charlesworth, and J. G. White
Sebastian Platelet Syndrome: A Hereditary Macrothrombocytopenia
Mayo Clin. Proc.,
November 1, 2003;
78(11):
1416 - 1421.
[Abstract]
[PDF]
|
|
|
|
|
|
|
S. Deutsch, A. Rideau, M.-L. Bochaton-Piallat, G. Merla, A. Geinoz, G. Gabbiani, T. Schwede, T. Matthes, S. E. Antonarakis, and P. Beris
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome
Blood,
July 15, 2003;
102(2):
529 - 534.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. C. Hood, C. Huxtable, I. Naito, C. Smith, R. Sinclair, and J. Savige
A novel model of autosomal dominant Alport syndrome in Dalmatian dogs
Nephrol. Dial. Transplant.,
December 1, 2002;
17(12):
2094 - 2098.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. Arrondel, N. Vodovar, B. Knebelmann, J.-P. Grunfeld, M.-C. Gubler, C. Antignac, and L. Heidet
Expression of the Nonmuscle Myosin Heavy Chain IIA in the Human Kidney and Screening for MYH9 Mutations in Epstein and Fechtner Syndromes
J. Am. Soc. Nephrol.,
January 1, 2002;
13(1):
65 - 74.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Drouin, R. Favier, J.-M. Masse, N. Debili, A. Schmitt, C. Elbim, J. Guichard, M. Adam, M.-A. Gougerot-Pocidalo, and E. M. Cramer
Newly recognized cellular abnormalities in the gray platelet syndrome
Blood,
September 1, 2001;
98(5):
1382 - 1391.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
B. Knebelmann, F. Fakhouri, and J.-P. Grunfeld
Hereditary nephritis with macrothrombocytopenia: no longer an Alport syndrome variant
Nephrol. Dial. Transplant.,
June 1, 2001;
16(6):
1101 - 1103.
[Full Text]
[PDF]
|
|
|
|
|
|
|
D. Richardson, M. Shires, and A. M. Davison
Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness
Nephrol. Dial. Transplant.,
June 1, 2001;
16(6):
1291 - 1294.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
T.-N. Willig, J. Breton-Gorius, C. Elbim, V. Mignotte, C. Kaplan, R. Mollicone, C. Pasquier, A. Filipe, F. Mielot, J.-P. Cartron, et al.
Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes{---}a new syndrome?
Blood,
February 1, 2001;
97(3):
826 - 828.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Toren, G. Rozenfeld-Granot, B. Rocca, C. J. Epstein, N. Amariglio, F. Laghi, R. Landolfi, F. Brok-Simoni, L. E. Carlsson, G. Rechavi, et al.
Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13
Blood,
November 15, 2000;
96(10):
3447 - 3451.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
F. Mertzlufft, A. Koster, H. Steinhart, J. F. Schenk, and G. J. Crystal
Fechtner's Syndrome: Considerations of Anesthetic Management
Anesth. Analg.,
June 1, 2000;
90(6):
1372 - 1372.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Kunishima, J. A. Lopez, S. Kobayashi, N. Imai, T. Kamiya, H. Saito, and T. Naoe
Missense Mutations of the Glycoprotein (GP) Ibbeta Gene Impairing the GPIb alpha /beta Disulfide Linkage in a Family With Giant Platelet Disorder
Blood,
April 1, 1997;
89(7):
2404 - 2412.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
