Table 2.

Demographic data and clinical characteristics of individuals carrying the C3 R570Q mutation

PatientSexAgeSerum Creatinine (mg/dl)aeGFR (ml/min/1.73m2)bUrine AbnormalitiesBlood Pressure (mmHg)Antihypertensives
III0.7F791.2741Microhematuria, hyaline casts150/90ARB, CCB
III0.10F771.5732Microhematuria, hyaline casts130/80ARB, Carvedilol
IV0.12M550.8989None160/110ARB, BB, Thiazide
IV0.16F520.7878Microhematuria, hyaline casts145/90None
V0.16F26ESRD160/110ACAI, BB, CCB
  • a Normal range 0.70–1.20 mg/dl for males and 0.70-1.10 mg/dl for females.

  • b Normal range 90–120 ml/min/1.73 m2.

  • V.16 is the index case.

  • eGFR was calculated using the modified MDRD formula in adults and the Schwartz formula in V.18.

  • Clinical data of V.8 are not available.

  • ARB, angiotensin receptor blocker; CCB, calcium channel blocker; BB, beta blocker; ACEI, angiotensin converting enzyme inhibitor.