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Table 1 Clinical data for the cases

From: Delineation of cystinuria in Saudi Arabia: A case series

Case

Current Age (Years “y”)

Gender

Affected Relatives

Age at Diagnosis

UTI

HTN

Renal Stones

Medical Treatment

Urology Intervention

Note

Case 1

10 y

female

Father, Two sisters, brother

Birth

Yes

No

Bilateral

Tiopronin and potassium citrate

Percutaneous

Nephrolithotomy

Shock wave lithotripsy

Short

Factor V deficiency in affected family members

Case 2

21 y

male

sister

Birth

No

No

Bilateral

Potassium citrate

Tiopronin

Right nephrectomy

Percutaneous

Nephrolithotomy

 

Case 3

23 y

Female

brother

12 years

No

No

Right side

Potassium citrate

Tiopronin

ESWL

 

Case 4

10 y

Female

none

3 years

Yes

Yes

Bilateral

Tiopronin

potassium citrate & Amlodipine

Lisinopril

Percutaneous

Nephrolithotomy

 

Case 5

29 y

Female

Paternal

Cousin

18 months

No

Yes

Bilateral

Tiopronin

Potassium Citrate

Enalapril

Percutaneous

Nephrolithotomy

 

Case 6

15 y

Male

Grandmother

10 years

No

Yes

Bilateral

Penicillamine and potassium citrate

Percutaneous

Nephrolithotomy

Vitiligo

Case 7

11 y

Female

Grandmother Brother, sister

10 years

no

No

Unilateral

Penicillamine and potassium citrate

Waiting for Percutaneous

Nephrolithotomy

 

Case 8

16 y

Male

Grandma Brother and sister

14 years

no

no

unilateral

Penicillamine and potassium citrate

none

Right-sided undescended testis

  1. UTI Urinary tract infection and HTN Hypertension