Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review

Nephron ◽  
2019 ◽  
Vol 143 (4) ◽  
pp. 282-287
Author(s):  
Dandan Liang ◽  
Shaoshan Liang ◽  
Mingchao Zhang ◽  
Erzhi Gao ◽  
Zhihong Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Literature Review ◽  
Autosomal Dominant

Iliac Pseudoaneurysm, Only a Manifestation With More Causes: A Case Report

2021 ◽  
pp. 152660282110250
Author(s):  
Barbara Infante ◽  
Adelaide Di Lorenzo ◽  
Dario Troise ◽  
Angela M. R. Ferrante ◽  
Maurizio Ruggieri ◽  
...  
Keyword(s):  
Risk Factor ◽  
Case Report ◽  
Kidney Disease ◽  
Surgical Procedures ◽  
Arterial Wall ◽  
Autosomal Dominant ◽  
Vascular Complication ◽  
Polycystic Kidney ◽  
Vessel Lumen ◽  
Autosomal Dominant Polycystic Kidney

Pseudoaneurysm is due to a disruption in arterial wall continuity. It forms a sac that communicates with the vessel lumen and is surrounded by the compressed, surrounding tissues and not by the wall of the artery from which the lesion arises. Many causes can predispose to the formation of a pseudoaneurysm such as trauma, surgical procedures, anticoagulation. In our patient another important risk factor for the formation of a pseudoaneurysm is ADPKD (autosomal dominant polycystic kidney disease) that can cause vascular complication. The mechanisms leading to the genesis of the pseudoaneurysms in our patient are unknown, but the clinicians should bear in mind when evaluating this type of patients that ADPKD may have a various range of systemic cardiovascular manifestation.

scholarly journals Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Manuela Quiroga-Carrillo ◽  
Cristian Correa-Arrieta ◽  
Fernando Ortiz-Corredor ◽  
Fernando Suarez-Obando
Keyword(s):  
Physical Activity ◽  
Case Report ◽  
Literature Review ◽  
Point Mutation ◽  
Gene Mutation ◽  
Musculoskeletal Disorder ◽  
Autosomal Dominant ◽  
Point Mutations ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.

scholarly journals Nocardiosis in Kidney Disease Patients under Immunosuppressive Therapy: Case Report and Literature Review

2019 ◽  
Vol 16 (6) ◽  
pp. 838-844 ◽  
Author(s):  
Tao Wang ◽  
Yun Jia ◽  
Bao Chu ◽  
HongTao Liu ◽  
XiaoLi Dong ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Literature Review ◽  
Immunosuppressive Therapy
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