Alport syndrome

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2025/3

Ematuria e non solo... a volte è questione di famiglia: la sindrome di Alport

Sarno E, Alberici I, La Scola C, Pillon R, Pasini A.

2025/3 — pag. 186-190 — DOI

The paper reports the case of a 4-year-old girl with recurrent episodes of macrohematuria. Her family history revealed renal and ocular anomalies. Clinical and genetic analyses confirmed X-linked compound heterozygosity for Alport syndrome, with two ...

Ematuria e non solo... a volte è questione di famiglia: la sindrome di Alport

Sarno E, Alberici I, La Scola C, Pillon R, Pasini A

2025/3 — pag. 72-72 — DOI

The paper reports the case of a 4-year-old girl with recurrent episodes of macrohematuria. Her family history revealed renal and ocular anomalies. Clinical and genetic analyses confirmed X-linked compound heterozygosity for Alport syndrome, with two ...

Ogni età ha la sua macroematuria

Delcaro G, Pennesi M.

2022/9 — pag. 598-600 — DOI

A girl with gross haematuria was finally diagnosed with X-linked Alport syndrome that was initially diagnosed as Berger syndrome. The clinical implication of X-linked Alport syndrome is discussed....