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Table 1 Phenotypic characteristics of 33-34insC mutation carriers

From: Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation

Family N° patient Circumstance of recruitment Consanguinity Circumstance of the diseases discovery Renal echography Oxaluria mmol/24H Oxaluria/creatininuria mmol/mmol Extra- renal alteration Evolution (age)
Pediatric cases
 Median Age of First symptoms: 2.5 years (range 6 months to 4 years)
 Median Age at diagnosis: 3 years (range 6 months to 12 years)
  F1 1* IC Anemia/RI nephrocal 0.4 0.67 (−) D (7 months)
  F2 2 IC RI lith + nephrocal 0.16 0,43 DG D (4 yrs)
  F3 3 IC RI lith 0.57 0.026 OC HD (7 yrs)
4 (sister) FS RI lith ND ND (−) D (2 yrs)
5 (sister) FS RI lith ND ND (−) D (3 yrs)
6 (sister) FS RI lith ND ND (−) D (1 yrs)
  F4 7 IC CN/AP lith 0.73 ND (−) HD (5 yrs)
Adult cases
 Median Age of First symptoms: 46.5 years (range 7 to 70 years)
 Median Age at diagnosis: 47.75 years (range 36 to 73 years)
  F5 8 IC CN/RI lith ND ND HT HD (61 yrs)
  F6 9 IC CN/RI lith ND ND OC HD (49 yrs)
10 (father) FS lith lith ND ND (−) HD (73 yrs)
  F7 11 IC CN/RI lith 0.73 ND (−) HD (48 yrs)
12 (niece) FS lith lith ND ND (−) D (12 yrs)
  F8 13 IC CN lith 2.55 ND (−) CRF (43 yrs)
14 (brother) FS lith lith Nl ND (−) Nl
  F9 15 IC CN lith Nl ND (−) Nl
16 (brother) FS lith lith Nl ND (−) Nl
  1. M male; F female; FS family screening; IC index case; RI renal insufficient; CN colic nephritic ; AP abdominal pain; lith urolithiasis; nephrocal nephrocalcinosis; ND not done; HT hypertension; DG digestive; OC ocular; HD hemodialysis ; CRF chronic renal failure; D dead; yrs years. *The patient was heterozygous for 33 insC/ I244T mutations and has Ma/Mi haplotype. All other patients were homozygous 33 insC mutation and have Ma/Ma haplotype.
  2. Oxalate/creatinine (mmol/mmol) ratio with relevant reference for age as reported by Belhaj et al. 2011 [27]: 0-6months: 0.36; 7-24 months: 0.17; 2-5 years: 0.10; >5 years: 0.081