Abstract: TH-PO1088

Epidemiological Insight into Nephrolithiasis in Pakistan

Session Information

Category: Mineral Disease

  • 1204 Mineral Disease: Nephrolithiasis


  • Amar, Ali, Boston Children's Hospital, Boston, Massachusetts, United States
  • Majmundar, Amar J., Boston Children's Hospital, Boston, Massachusetts, United States
  • Afzal, Ayesha, University of Health Sciences, Lahore, Punjab, Pakistan
  • Ahmad, Mumtaz, Fatima Jinnah Medical University & Sir Ganga Ram Hospital, Lahore, Pakistan
  • Khaliq, Shagufta, University of Health Sciences, Lahore, Punjab, Pakistan
  • Hildebrandt, Friedhelm, Boston Children's Hospital, Boston, Massachusetts, United States

Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes high patient morbidity, frequent hospitalizations and surgical interventions. Pakistan resides within the Afro-Asian stone belt with a high NL prevalence of 12-15% (Rizvi BJU Int 89: S62, 2002). We have shown that a genetic cause in NL can be identified in about 11% of adult and 16-20% of pediatric stone formers (Halbritter JASN 26: 543, 2015; Braun cJASN 11: 664, 2016).


From 07/2014 to 12/2016, we recruited 242 families with NL, based on ultrasound finding of at least one renal stone, from 5 different tertiary care hospitals in Punjab, Pakistan, administrating a clinical survey that characterized age of onset, stone recurrence, and family history confirmed by their urologist and/or medical records. In 33 NL families, additional recruitments were made who had an average of 4 family members with at least one stone (range 1-28) and pedigrees were constructed.


Our NL cohort consisted of 438 individuals (348 affected). The median age of onset of probands was 28 years (1-76 years, n = 123). 26% (32/123) presented at <18 years of age. There were 148 male and 94 female stone formers (M:F is 1.57:1). 50% (110/220) had >1 stone episode in their lifetime. Multiple stones at presentation were observed in 60.4% (134/222) of subjects. The family history of NL was positive in 48.6% (108/222) of cases. 50% (79/158) of subjects were born of consanguineous unions. 78.8% (26/33) of large multigenerational families for whom pedigrees were generated, exhibited multiple affected individuals in each generation, suggesting a strong genetic pattern of inheritance that is dominant or recessive with multiple consanguinity.


Here we describe a large cohort of Pakistani NL subjects with a high frequency of stone recurrence and familial cases. Pedigree analysis suggests a genetic causation. Whole exome sequencing to identify causative mutations in known or novel NL genes is underway.


  • Government Support - Non-U.S.