Successful renal transplantation following hemodialysis as bridging therapy in a patient with Fechtner syndrome: a case report and literature review

Table 3 Clinical presentation of cases with mutations that result in the removal or duplication of the one specific amino-acid sequence as in this case

Age, sex	Family	Location	Mutations	Platelets (× 10⁹/L)	ESRD	Urinary protein	Comments	Ref
47, M	1	Japan	p.E1066_A1072del	65	No	Yes	–	[31]
56, M	2	Japan	p.A1065_A1072dup	82	No	Yes	–	[30]
50, F	3	Italy	p.E1066_A1072dup	70–100	No	No	Slight easy bruising	[32]
25, F	3	Italy	p.E1066_A1072dup	90–100	No	No	–	[32]
23, M	3	Italy	p.E1066_A1072dup	30–80	No	No	–	[32]
26, M	4	China	p.A1065_A1072del	NS	Yes	No	–	[15]
7, F	4	China	p.A1065_A1072del	NS	No	Yes	–	[15]
4, M	4	China	p.A1065_A1072del	NS	No	Yes	–	[15]
1.5, NS	5	Italy	p.E1066_A1072del	68	No	No	–	[1]
38, NS	5	Italy	p.E1066_A1072del	NS	No	Yes	–	[23]
25, NS	6	Italy	p.E1066_A1072del	NS	No	No	–	[23]
6, M	7	Japan	p.A1065_A1072del	54	No	Yes	Hematoma after renal biopsy	[33]

ESRD end-stage renal disease, M male, F female, NS not stated, Ref references

ISSN: 2059-1381