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Cystinuria in children in bahrain
Badriya Al-Hermi1, Amal Al-Kameli, Abbas A Aal
1Department of Pediatrics, Salmaniya Medical Complex, Bahrain.
Insights
Cystinuria, a rare genetic disorder affecting amino acid transport, causes kidney stone formation in children. This report details three pediatric cases from Bahrain, highlighting varied stone presentations and management strategies.
Area of Science:
- Nephrology
- Pediatric Nephrology
- Medical Genetics
Background:
- Cystinuria is a rare autosomal recessive metabolic disorder.
- It involves defective transport of cystine and dibasic amino acids in the kidneys and intestines.
- Renal stone formation is the primary clinical manifestation.
Purpose of the Study:
- To report three pediatric cases of cystinuria in Bahrain.
- To describe the clinical presentation, management, and outcomes of these cases.
- To highlight the occurrence of cystinuria in pediatric patients in the region.
Main Methods:
- Case series presentation.
- Review of clinical data including patient history, diagnostic imaging (ultrasound, IVP), and treatment records.
- Family screening for affected siblings.
Main Results:
- Case 1: A 13-year-old boy with Bernard Soulier syndrome and staghorn kidney stones, managed with ESWL, PCNL, and medical therapy for recurrent stones.
- Case 2: A 10-year-old boy, diagnosed via family screening, presented with bilateral tiny renal stones.
- Case 3: A 4-year-old girl presented with UTI, hydronephrosis, and bilateral ureteral stones, requiring multiple cystoscopies and lithotripsy.
Conclusions:
- Cystinuria presents with diverse renal stone manifestations in children.
- Effective management involves high fluid intake, low sodium diet, and pharmacotherapy (e.g., captopril, K-citrate, D-penicillamine).
- This is the first reported series of pediatric cystinuria cases from Bahrain.
Abstract:
Cystinuria is a rare autosomal recessive trait with a defect in transport of cystine and other dibasic amino acids in the kidney and intestine. Renal stone formation is the only clinical presentation of cystinuria. We present herewith three cases with cystinuria. Case 1 is a 13-year-old boy known to have Bernard Soulier syndrome who presented at the age of six years with staghorn stone of the left kidney. He was treated with extracorporeal shock wave lithotripsy (ESWL) with little benefit, followed by percutaneous nephro-lithotomy (PCNL). He still gets recurrent renal stones and is being treated with high fluid intake, low sodium diet, captopril, K-citrate and D-pencillamine. Case 2 is a 10-year-old boy, brother of the first patient, who was diagnosed as cystinuria on family screening. He presented with bilateral tiny renal stones. Case 3 is a four-year-old girl who presented at the age of 1.5 years with urinary tract infection (UTI). Renal ultrasound showed left hydronephrosis and intravenous pyelography (IVP) showed bilateral ureteral stones. She underwent cystoscopy and lithiotripsy twice; currently she is on captopril, K-citrate, high fluid intake and low sodium diet. We believe this is the first report of cystinuria in children from Bahrain.
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