Hereditary Nephritis Associated with May-Hegglin Anomaly

Brivet, F.; Girot, Robert; Barbanel, C; Gazengel, C.; Maier, Morgan; Crosnier, J

doi:10.1159/000182240

Cited by 28 publications

(11 citation statements)

References 15 publications

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“…Hereditary nephritis associated with MHA was reported previously by Brivet et al [1981] in 4 relatives of a family. However, they lacked the ocular and hearing abnormalities which characterize the Fechtner syndrome.…”

Section: Discussionmentioning

confidence: 59%

Fechtner syndrome: Clinical and genetic aspects

et al. 1988

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Fechtner syndrome, a variant of Alport syndrome, was first reported by Peterson et al. [1985]. It is characterized by nephritis, hearing loss, eye abnormalities, macrothrombocytopenia, and leucocyte inclusions, present in varying combinations in several members of the same family. This is the second family reported; 16 relatives are affected. The clinical manifestations of the syndrome are delineated. The pattern of inheritance is autosomal dominant. The hematologic abnormalities are similar to those detected in May Hegglin anomaly. They are present in every affected relative and may be present at birth. The feasibility of prenatal diagnosis is discussed.

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Section: Discussionmentioning

confidence: 59%

Fechtner syndrome: Clinical and genetic aspects

et al. 1988

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“…The diagnosis of our patient was therefore changed to Fechtner syndrome. This also suggests that older case reports of patients with macrothrombocytopenia and leukocyte inclusions but without the complete picture of Alport-related symptoms may actually have been patients with Fechtner syndrome [3].…”

Section: Discussionmentioning

confidence: 97%

“…A literature search retrieved nine publications on Fechtner syndrome [7,13,15,16,20,24,26,27,31] and seven on Sebastian syndrome [9,10,14,22,23,30,31]. There are some additional reports on patients with thrombocytopenia and nephritis [2,3,4,5,6,11,21], but these patients either lacked the typical leukocyte inclusions [2,4,5,6,11,21] or they had no hearing problems [3].…”

Section: Discussionmentioning

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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“…Brivet et al described cases with macrothrombopathia, May-Hegglin anomaly, and congenital nephritis, but without deafness. 8 Hereditary thrombocytopenias are usually diagnosed as ITP in childhood before the detection of other manifestations of Alport or Epstein syndrome. This also happened with the father of this neonate.…”

Section: Discussionmentioning

confidence: 99%