Fechtner syndrome: Clinical and genetic aspects

Gershoni‐Baruch, Ruth; Baruch, Yaacov; Viener, A; Lichtig, Chaim

doi:10.1002/ajmg.1320310213

Cited by 38 publications

(21 citation statements)

References 30 publications

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“…Fechtner syndrome is another disease with nephritis and sensorineural deafness [10], This disease is inherited in an autosomal dominant fashion and is characterized by eye abnormalities, leukocyte inclusions, and macroth rombocytopenia. Ultrastructurally, a thickened GBM without splitting of the lamina densa was noted in a patient with the syndrome [11], Thus, the disease in the boy described here is apparently different from Fechtner syndrome.…”

Section: Discussionmentioning

confidence: 99%

Chronic Nephritis, Sensorineural Deafness, Growth and Developmental Retardation, Hyperkinesis, and Cleft Soft Palate in a 5-Year-Old Boy

Kawakami

Murakami²,

Murano³

et al. 1990

Nephron

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A 5-year-old Japanese boy showed nephritis similar to, but distinct from, that in Alport syndrome. Nephrotic syndrome without hematuria was noticed at age 2, although renal biopsy at age 4 revealed widespread irregular thickening of the glomerular basement membrane with splitting of the lamina densa on electron microscopy, characteristic of nephritis in Alport syndrome. Sensorineural deafness was noticed at age 4 weeks by no auditory brain stem response, unusually early for Alport syndrome. Goodpasture antigen and amyloid P component were found in the glomerular basement membrane. Thus, the antigenicity of the glomerular basement membrane was different from that in male patients with X-linked Alport syndrome. In addition, growth and developmental retardation, hyperkinesis, and cleft soft palate were seen. These features are a hitherto undescribed combination. The family history was negative for any of the features of the boy.

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Section: Discussionmentioning

confidence: 99%

Chronic Nephritis, Sensorineural Deafness, Growth and Developmental Retardation, Hyperkinesis, and Cleft Soft Palate in a 5-Year-Old Boy

Kawakami

Murakami²,

Murano³

et al. 1990

Nephron

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“…The bleeding tendency in MHA and some related familial platelet disorders like Fechtner syndrome and Sebastian platelet syndrome is generally mild [9][10][11][12][13]. Nevertheless, occasionally bleeding time if prolonged may endanger organs or even life [14].…”

Section: Discussionmentioning

confidence: 99%

Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy

2005

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May-Hegglin anomaly (MHA) is a rare type of autosomal dominant platelet disorder associated with mutations in the gene encoding nonmuscle myosin heavy chain 9 (MYH9). It is characterized by the presence of large platelets, leukocyte inclusions, and thrombocytopenia. The bleeding tendency is usually mild, but severe hemorrhages have been reported. This is the first reported case of a patient with MHA who underwent craniotomy for intractable seizure disorder of temporal lobe origin. Patients who have thrombocytopenia have a higher likelihood of developing intraoperative or postoperative intracranial hematoma and bleeding complications. The patient was administered desmopressin (DDAVP) prior to the neurosurgical procedure and had no complications. With this approach, the use of platelet concentrates could be avoided. We discuss the role of DDAVP in MHA and related platelet disorders and review the current literature. Am.

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“…The pattern of inheritance is autosomal dominant [7]. The disease-causing gene has been mapped to the long arm of chromosome 22 [27,28,29].…”

Section: Discussionmentioning

confidence: 99%

“…Fechtner and Sebastian platelet syndromes are extremely rare disease entities. The bleeding tendency in both syndromes is generally mild [7,8,13,16,20,24]. However, one intracerebral hemorrhage [15] and even fatal hemorrhages in affected relatives have been reported [9,10].…”

Section: Introductionmentioning

confidence: 99%

Perioperative management of a patient with Fechtner syndrome

Malzahn

et al. 2001

Ann Hematol

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Fechtner syndrome is a rare type of familial thrombocytopenia associated with large platelets, leukocyte inclusions, and features of Alport's syndrome. The bleeding tendency is usually mild, but severe hemorrhages have been reported. This is the case of a patient with Fechtner syndrome who was scheduled to undergo tonsillectomy. The patient had a history of easy bruising in childhood and a markedly prolonged bleeding time. Administration of DDAVP led to normalization of the bleeding time, and the patient underwent surgery without complications. With this approach the use of platelet concentrates could be avoided.

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Fechtner syndrome: Clinical and genetic aspects

Cited by 38 publications

References 30 publications

Chronic Nephritis, Sensorineural Deafness, Growth and Developmental Retardation, Hyperkinesis, and Cleft Soft Palate in a 5-Year-Old Boy

Chronic Nephritis, Sensorineural Deafness, Growth and Developmental Retardation, Hyperkinesis, and Cleft Soft Palate in a 5-Year-Old Boy

Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy

Perioperative management of a patient with Fechtner syndrome

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