scholarly journals Fechtner Syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Fechtner Syndrome

scholarly journals Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia

Blood ◽  
1985 ◽  
Vol 65 (2) ◽  
pp. 397-406 ◽  
Author(s):  
LC Peterson ◽  
KV Rao ◽  
JT Crosson ◽  
JG White
Keyword(s):  
Adenosine Diphosphate ◽  
Cell Number ◽  
Alport's Syndrome ◽  
Cytoplasmic Inclusions ◽  
Microscopic Appearance ◽  
Alport’S Syndrome ◽  
Fechtner Syndrome ◽  
Ultrastructural Appearance ◽  
10 Nm Filaments ◽  
End Stage

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.

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

2003 ◽  
Vol 41 (1) ◽  
pp. 95-104 ◽  
Author(s):  
Gian Marco Ghiggeri ◽  
Gianluca Caridi ◽  
Umberto Magrini ◽  
Adalberto Sessa ◽  
Anna Savoia ◽  
...  
Keyword(s):  
Pathological Features ◽  
Nonmuscle Myosin ◽  
Fechtner Syndrome ◽  
Myosin Iia ◽  
Clinical And Pathological Features

scholarly journals Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13

1999 ◽  
Vol 65 (6) ◽  
pp. 1711-1717 ◽  
Author(s):  
Amos Toren ◽  
Ninette Amariglio ◽  
Galit Rozenfeld-Granot ◽  
Amos J. Simon ◽  
Frida Brok-Simoni ◽  
...  
Keyword(s):  
Genetic Linkage ◽  
Alport Syndrome ◽  
Autosomal Dominant ◽  
Chromosome 22Q11 ◽  
Fechtner Syndrome

Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome)

2007 ◽  
Vol 79 (3) ◽  
pp. 263-268 ◽  
Author(s):  
Kathleen Selleng ◽  
Lena E. Lubenow ◽  
Andreas Greinacher ◽  
Theodore E. Warkentin
Keyword(s):  
Perioperative Management ◽  
Fechtner Syndrome

End-stage renal disease in two pediatric patients with Fechtner syndrome

1999 ◽  
Vol 13 (9) ◽  
pp. 782-786 ◽  
Author(s):  
Marva M. Moxey-Mims ◽  
G. Young ◽  
Adam Silverman ◽  
Dena M. Selby ◽  
James G. White ◽  
...  
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Pediatric Patients ◽  
Fechtner Syndrome ◽  
Stage Renal Disease ◽  
End Stage

Fechtner syndrome: Clinical and genetic aspects

1988 ◽  
Vol 31 (2) ◽  
pp. 357-367 ◽  
Author(s):  
R. Gershoni-Baruch ◽  
Y. Baruch ◽  
A. Viener ◽  
C. Lichtig ◽  
John M. Opitz ◽  
...  
Keyword(s):  
Fechtner Syndrome

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Blood ◽  
2003 ◽  
Vol 102 (2) ◽  
pp. 529-534 ◽  
Author(s):  
Samuel Deutsch ◽  
Alexandra Rideau ◽  
Marie-Luce Bochaton-Piallat ◽  
Giuseppe Merla ◽  
Antoine Geinoz ◽  
...  
Keyword(s):  
Mrna Stability ◽  
Inclusion Bodies ◽  
Autosomal Dominant ◽  
Protein Localization ◽  
Sensorineural Deafness ◽  
Nonmuscle Myosin ◽  
Giant Platelets ◽  
Myh9 Gene ◽  
Fechtner Syndrome ◽  
Genotype Correlation

AbstractMay-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), Sebastian syndrome (SBS), and Epstein syndrome (EPS) are a group of rare, autosomal dominant disorders characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies, together with variable manifestations of Alport-like symptoms that include high-tone sensorineural deafness, cataracts, and nephritis. These disorders result from mutations in the MYH9 gene, which encodes for the nonmuscle myosin heavy chain A protein (also known as NMMHC-A). To date 20 different mutations have been characterized for this gene, but no clear phenotype-genotype correlation has been established, and very little is known regarding the molecular pathogenesis of this group of diseases. Here, we describe 2 new families with MHA/FTNS phenotypes that have been characterized in terms of their mutations, protein localization in megakaryocytes, protein expression, and mRNA stability. Our findings suggest that, at least for the Asp1424Asn mutation in the MYH9 gene, the phenotypes result from a highly unstable protein. No abnormalities in protein localization or mRNA stability were observed. We hypothesize that haploinsufficiency of the MYH9 results in a failure to properly reorganize the cytoskeleton in megakaryocytes as required for efficient platelet production.

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