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 ...

Crisi convulsive in corso di gastroenterite: una condizione benigna

Del Monte F, Viale S.

2022/9 — pag. 598-600 — DOI

The paper describes the case of a 17-month-old child presenting with gastro- enteritis with recurrent convulsions finally diagnosed as benign convulsions with mild gastroenteritis (CWG).The clinical, diagnostic and prognostic implications of this con...

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....

Una bambina con lupus eritematoso sistemico che non vuole andare a scuola

Pastore S.

2022/9 — pag. 598-600 — DOI

The intriguing case of a girl affected by LES with a superimposed somatic pain syndrome (intractable, unexplained headache, prolonged school absence) is presented and discussed....