Articles

Evaluation of Metabolic and Biochemical Abnormalities in Pediatric Population With Nephrocalcinosis in Southwestern Iran

Abstract

This retrospective study aimed to evaluate the metabolic and biochemical abnormalities in children with nephrocalcinosis to identify its important risk factors and better understand the disease pathophysiology. Data were collected from the medical records of 163 children diagnosed with nephrocalcinosis. Their clinical and laboratory characteristics at admission were recorded, and a 24-hour urinalysis was performed to measure parameters such as calcium, oxalate, citrate, uric acid, magnesium, and cystine. Family history of kidney stones and parental consanguinity were present in 58.8% and 58.2% of patients, respectively. The most common underlying conditions were hyperparathyroidism (24%), distal renal tubular acidosis (16.6%), and medullary sponge kidney (12.9%). The main abnormalities included hypocitraturia (65.2%), hypercalciuria (51.9%), hypomagnesuria (44.6%), hyperoxaluria (39.1%), hyperuricosuria (31.5%), vitamin D deficiency (30.06%), and metabolic acidosis (27%). Patients with kidney stones and failure to thrive had higher rates of hypercalciuria. Metabolic acidosis was more common in those with parental consanguinity and vitamin D deficiency. Renal failure at final follow-up was more evident in older patients, those with parental consanguinity, hypokalemia, acidosis, and hyperparathyroidism. End-stage renal disease was more frequent in patients with consanguineous parentage, hyperparathyroidism, hypokalemia, and acidosis. Parental consanguinity, family history of kidney stones, and urinary metabolic disorders are important risk factors for pediatric nephrocalcinosis. This highlights the need for genetic counseling, screening, and monitoring of biochemical abnormalities. Early diagnosis and timely treatment are crucial to maintain glomerular function and prevent kidney failure.

1. Vaidya SR, Yarrarapu SNS, Aeddula NR. Nephrocalcinosis. [Updated 2022 Aug 10]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023.
2. Dickson FJ, Sayer JA. Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition. Int J Mol Sci 2020;21:369.
3. Hooda AK, Narula AS, Raychaudhury N, Chatterji S. Renal cortical nephrocalcinosis following acute renal failure due to polytrauma. Ren Fail 2007;29:231-3.
4. Shavit L, Jaeger P, Unwin RJ. What is nephrocalcinosis? Kidney Int 2015;88:35‐43.
5. Lin TH, Lu HJ, Lin CH, Lee MD, Chang BP, Lin CC, et al. Nephrocalcinosis in children who received high-dose vitamin D. Pediatr Nephrol 2022;37:2471-8.
6. Palmer BF, Kelepouris E, Clegg DJ. Renal Tubular Acidosis and Management Strategies: A Narrative Review. Adv Ther 2021;38:949-68.
7. Mei Z, Ogden CL, Flegal KM, Grummer-Strawn LM. Comparison of the prevalence of shortness, underweight, and overweight among US children aged 0 to 59 months by using the CDC 2000 and the WHO 2006 growth charts. J Pediatr 2008;153:622-8.
8. Zakaria M, Azab S, Rafaat M. Assessment of risk factors of pediatric urolithiasis in Egypt. Transl Androl Urol 2012;1:209-15.
9. Jobs K, Rakowska M, Paturej A. Urolithiasis in the pediatric population-current opinion on epidemiology, patophysiology, diagnostic evaluation and treatment. Dev Period Med 2018;22:201-8.
10. Poyrazoğlu HM, Düşünsel R, Yazici C, Durmaz H, Dursun I, Sahin H, et al. Urinary uric acid: creatinine ratios in healthy Turkish children. Pediatr Int 2009;51:526-9.
11. Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL. Pediatric nephrology, 7th ed. Springer: Berlin, Heidelberg, 2015.
12. Jung B, Martinez M, Claessens YE, Darmon M, Klouche K, Lautrette A, et al. Diagnosis and management of metabolic acidosis: guidelines from a French expert panel. Ann Intensive Care 2019;9:92.
13. Kardalas E, Paschou SA, Anagnostis P, Muscogiuri G, Siasos G, Vryonidou A. Hypokalemia: a clinical update. Endocr Connect 2018;7:R135-46.
14. Amrein K, Scherkl M, Hoffmann M, Neuwersch-Sommeregger S, Köstenberger M, Tmava Berisha A, et al. Vitamin D deficiency 2.0: an update on the current status worldwide. Eur J Clin Nutr 2020;74:1498-513.
15. Rajkumar V, Levine SN. Normocalcemic Hyperparathyroidism. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023.
16. Monet-Didailler C, Chateil JF, Allard L, Godron-Dubrasquet A, Harambat J. Néphrocalcinose de l’enfant. Néphrologie Thérapeutique 2021;17:58-66.
17. Vervaet BA, Verhulst A, d'Haese PC, De Broe ME. Nephrocalcinosis: new insights into mechanisms and consequences. Nephrol Dial Transplant. 2009;24:2030-5.
18. Floege J, Johnson RJ, Feehally J. Comprehensive clinical nephrology E-book. Elsevier Health Sciences; 2010.
19. Kari JA, Shalaby MA, Qari FA, Albanna AS, Alhasan KA. Childhood nephrolithiasis and nephrocalcinosis caused by metabolic diseases and renal tubulopathy: A retrospective study from 2 tertiary centers. Saudi Med J 2022;43:81-90.
20. Benigno V, Canonica CS, Bettinelli A, von Vigier RO, Truttmann AC, Bianchetti MG. Hypomagnesaemia–hypercalciuria–nephrocalcinosis: a report of nine cases and a review. Nephrol Dial Transplant 2000;15:605-10.
21. Amancio L, Fedrizzi M, Bresolin NL, Penido MG. Pediatric urolithiasis: experience at a tertiary care pediatric hospital. J Bras Nefrol 2016;38:90-8.
22. Alemzadeh-Ansari MH, Valavi E, Ahmadzadeh A. Predisposing factors for infantile urinary calculus in south-west of Iran. Iran J Kidney Dis 2014;8:53-7.
23. Ertan P, Tekin G, Oger N, Alkan S, Horasan GD. Metabolic and demographic characteristics of children with urolithiasis in Western Turkey. Urol Res 2011;39:105-10.
24. Alhasan KA, Shalaby MA, Albanna AS, Temsah MH, Alhayek Z, Abdalla MS, et al. Comparison of Renal Stones and Nephrocalcinosis in Children: Findings From Two Tertiary Centers in Saudi Arabia. Front Pediatr 2022;9:736308.
25. Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, et al. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int 2018;93:204-13.
26. Gefen AM, Sethna CB, Cil O, Perwad F, Schoettler M, Michael M, et al. Genetic testing in children with nephrolithiasis and nephrocalcinosis. Pediatr Nephrol 2023;38:2615-22.
27. Choi N, Kim SH, Bae EH, Yang EM, Lee KH, Lee SH, et al. Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea. Front Med (Lausanne) 2023;10:1099840.
28. Shroff R, Knott C, Rees L. The virtues of vitamin D—but how much is too much? Pediatr Nephrol 2010;25:1607-20.
29. Michaud J, Naud J, Ouimet D, Demers C, Petit JL, Leblond FA, et al. Reduced hepatic synthesis of calcidiol in uremia. J Am Soc Nephrol 2010;21:1488-97.
30. Grant WB, Boucher BJ, Bhattoa HP, Lahore H. Why vitamin D clinical trials should be based on 25-hydroxyvitamin D concentrations. J Steroid Biochem Mol Biol 2018;177:266-9.
31. Shroff R, Wan M, Gullett A, Ledermann S, Shute R, Knott C, et al. Ergocalciferol Supplementation in Children with CKD Delays the Onset of Secondary Hyperparathyroidism: A Randomized Trial. Clin J Am Soc Nephrol 2012;7:216-23.
32. Shroff R, Wan M, Rees L. Can vitamin D slow down the progression of chronic kidney disease? Pediatr Nephrol 2012;27:2167-73.
33. Bhowmick R. Normal Anion Gap Metabolic Acidosis in Pediatric Acute Diarrhea: A Menace or an Innocent Bystander? Indian J Crit Care Med 2022;26:1235-6.
34. Alexander RT, Cordat E, Chambrey R, Dimke H, Eladari D. Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders. J Am Soc Nephrol 2016;27:3511-20.
35. Frías Ordoñez JS, Urrego Díaz JA, Lozano Triana CJ, Millán GL. Distal Renal Tubular Acidosis: Case Series Report and Literature Review. Revista Colombiana de Nefrología 2020;7:97-112.
36. Tahir NL, Hassan QA, Kamber HM. The Prevalence of a Clinically Silent Nephrolithiasis in Baghdad Population: An Initial Ultrasound Screening Study From Iraq. Acta Med Iran 2019;57:51-6.
Files
IssueVol 61 No 12 (2023) QRcode
SectionArticles
DOI https://doi.org/10.18502/acta.v61i12.16372
Keywords
Pediatric Nephrocalcinosis Risk factor Consanguinity Metabolic disorders

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Valavi E, Fattahinezhad E, Amoori P, Fathi M, Hoseinynejad K. Evaluation of Metabolic and Biochemical Abnormalities in Pediatric Population With Nephrocalcinosis in Southwestern Iran. Acta Med Iran. 2024;61(12):749-757.