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Fechtner syndrome(FTNS)

MedGen UID:
96041
Concept ID:
C0403445
Disease or Syndrome
Synonyms: ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA; FTNS; MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS; MYH9-Related Disorders
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Fechtner syndrome (236422008)
 
Gene: MYH9
Cytogenetic location: 22q12.3
OMIM: 153640

Disease characteristics

Excerpted from the GeneReview: MYH9-Related Disorders
MYH9-related disorders (MYH9RD) are characterized by large platelets (i.e., >20% of platelets >4 μm in diameter) and thrombocytopenia (platelet count <150x109/L), both of which are present from birth. MYH9RD is variably associated with young-adult onset of progressive high-frequency sensorineural hearing loss, presenile cataract, and renal disease manifesting initially as glomerulonephritis. Before identification of the gene in which mutation is causative, MYH9, individuals with MYH9RD were diagnosed as having Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, or Sebastian syndrome based on the combination of different clinical findings at the time of diagnosis. However, the realization that they all have MYH9 mutations and that their clinical picture often worsens throughout life as a result of late onset of non-hematologic manifestations has led the four conditions to be regarded as one disorder, now known as MYH9RD. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Anna Savoia  |  Carlo L Balduini   view full author information

Additional descriptions

From OMIM
Fechtner syndrome is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts (Peterson et al., 1985). There are several other disorders caused by mutation in the MYH9 gene that share overlapping features with Fechtner syndrome. May-Hegglin anomaly (155100) is characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome (153650) has the platelet defect, deafness, and nephritis, but does not have cataract and lacks leukocyte inclusion bodies on classic staining of peripheral blood smears. The findings of nephritis, hearing loss, and occasional cataracts in Fechtner and Epstein syndromes are reminiscent of Alport syndrome (see 301050). Sebastian syndrome (605249) is similar to May-Hegglin anomaly, but has a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders, May-Hegglin, Sebastian, Epstein, and Fechtner syndromes, are not distinct entities, but rather represent a single disorder with a continuous clinical spectrum, for which they proposed the term 'MYH9-related disease.' However, other disorders, e.g., macrothrombocytopenia and progressive sensorineural deafness (600208) and a form of nonsyndromic deafness (DFNA17; 603622), are also caused by mutation in the MYH9 gene.  http://www.omim.org/entry/153640
From GHR
MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting. Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood. An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein and/or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD). Some affected individuals develop cataracts in early adulthood that worsen over time. Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder. MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.  http://ghr.nlm.nih.gov/condition/myh9-related-disorder

Clinical features

Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Nephritis
MedGen UID:
504350
Concept ID:
CN000119
Finding
The presence of `inflammation` (MPATH:212) affecting the `kidney` (FMA:7203).
Menorrhagia
MedGen UID:
504356
Concept ID:
CN000128
Finding
Abnormally heavy and prolonged menstrual period.
Stage 5 chronic kidney disease
MedGen UID:
505594
Concept ID:
CN003407
Finding
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
High-frequency sensorineural hearing impairment
MedGen UID:
427892
Concept ID:
CN001598
Finding
A form of `sensorineural hearing impairment` (HP:0008538) that affects primarily the higher frequencies.
Menorrhagia
MedGen UID:
504356
Concept ID:
CN000128
Finding
Abnormally heavy and prolonged menstrual period.
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen.
Menorrhagia
MedGen UID:
504356
Concept ID:
CN000128
Finding
Abnormally heavy and prolonged menstrual period.
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Abnormal bleeding
MedGen UID:
504992
Concept ID:
CN001711
Finding
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Giant platelets
MedGen UID:
504996
Concept ID:
CN001720
Finding
Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
Neutrophil inclusion bodies
MedGen UID:
428792
Concept ID:
CN007265
Finding
The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Neutrophil inclusion bodies
MedGen UID:
428792
Concept ID:
CN007265
Finding
The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

Althaus K, Najm J, Greinacher A
Klin Padiatr 2011 May;223(3):120-5. Epub 2011 May 12 doi: 10.1055/s-0031-1275664. PMID: 21567368
Selleng K, Lubenow LE, Greinacher A, Warkentin TE
Eur J Haematol 2007 Sep;79(3):263-8. Epub 2007 Jul 26 doi: 10.1111/j.1600-0609.2007.00913.x. [Epub ahead of print] PMID: 17655694
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A
Medicine (Baltimore) 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. PMID: 12792306
Deutsch S, Rideau A, Bochaton-Piallat ML, Merla G, Geinoz A, Gabbiani G, Schwede T, Matthes T, Antonarakis SE, Beris P
Blood 2003 Jul 15;102(2):529-34. Epub 2003 Mar 20 doi: 10.1182/blood-2002-09-2783. [Epub ahead of print] PMID: 12649151
Moxey-Mims MM, Young G, Silverman A, Selby DM, White JG, Kher KK
Pediatr Nephrol 1999 Nov;13(9):782-6. doi: 10.1007/s004670050700. PMID: 10603121

Diagnosis

Pelzer U, Braig-Scherer U, Riess H
Int J Gynaecol Obstet 2010 May;109(2):163-4. Epub 2010 Feb 23 doi: 10.1016/j.ijgo.2010.01.008. [Epub ahead of print] PMID: 20178880
Selleng K, Lubenow LE, Greinacher A, Warkentin TE
Eur J Haematol 2007 Sep;79(3):263-8. Epub 2007 Jul 26 doi: 10.1111/j.1600-0609.2007.00913.x. [Epub ahead of print] PMID: 17655694
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A
Medicine (Baltimore) 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. PMID: 12792306
Fukada Y, Yasumizu T, Sumino E, Hoshi K
Tohoku J Exp Med 2000 Jul;191(3):183-6. PMID: 10997559
Moxey-Mims MM, Young G, Silverman A, Selby DM, White JG, Kher KK
Pediatr Nephrol 1999 Nov;13(9):782-6. doi: 10.1007/s004670050700. PMID: 10603121

Therapy

Rheingold SR
Pediatr Blood Cancer 2007 Jan;48(1):105-7. doi: 10.1002/pbc.20677. PMID: 16276527
Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A
Nephrol Dial Transplant 2001 Oct;16(10):2008-12. PMID: 11572889
Matzdorff AC, White JG, Malzahn K, Greinacher A
Ann Hematol 2001 Jul;80(7):436-9. PMID: 11529472

Prognosis

Landi D, Lockhart E, Miller SE, Datto M, Rehder C, Kanaly A, Thornburg CD
J Pediatr Hematol Oncol 2012 Oct;34(7):538-40. doi: 10.1097/MPH.0b013e3182678fc9. PMID: 23007341
Pujol-Moix N, Kelley MJ, Hernández A, Muñiz-Diaz E, Español I
Haematologica 2004 Mar;89(3):330-7. PMID: 15020273
Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, Di Bari F, Koivisto PA, Bolognesi M, Ghiggeri GM, Landolfi R, Balduini CL, Zelante L, Ravazzolo R, Renieri A, Savoia A
Hum Genet 2002 Feb;110(2):182-6. Epub 2001 Dec 14 doi: 10.1007/s00439-001-0659-1. [Epub ahead of print] PMID: 11935325
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
Nat Genet 2000 Sep;26(1):103-5. doi: 10.1038/79063. PMID: 10973259

Clinical prediction guides

Selleng K, Lubenow LE, Greinacher A, Warkentin TE
Eur J Haematol 2007 Sep;79(3):263-8. Epub 2007 Jul 26 doi: 10.1111/j.1600-0609.2007.00913.x. [Epub ahead of print] PMID: 17655694
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A
Medicine (Baltimore) 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. PMID: 12792306
Toren A, Rozenfeld-Granot G, Rocca B, Epstein CJ, Amariglio N, Laghi F, Landolfi R, Brok-Simoni F, Carlsson LE, Rechavi G, Greinacher A
Blood 2000 Nov 15;96(10):3447-51. PMID: 11071640
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
Nat Genet 2000 Sep;26(1):103-5. doi: 10.1038/79063. PMID: 10973259
Toren A, Amariglio N, Rozenfeld-Granot G, Simon AJ, Brok-Simoni F, Pras E, Rechavi G
Am J Hum Genet 1999 Dec;65(6):1711-7. doi: 10.1086/302654. PMID: 10577925Free PMC Article

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