Ann Pediatr Endocrinol Metab.  2013 Sep;18(3):152-155. 10.6065/apem.2013.18.3.152.

Refractory rickets caused by mild distal renal tubular acidosis

• Lee JH
• Park JH
• Ha TS
• Han HS

• KMID: 2266368
• DOI: http://doi.org/10.6065/apem.2013.18.3.152

Abstract

Type I (distal) renal tubular acidosis (RTA) is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis, an abnormal increase in urine pH, reduced urinary excretion of ammonium and bicarbonate ions, and mild deterioration in renal function. Hypercalciuria is common in distal RTA because of bone resorption, which increases as a buffer against metabolic acidosis. This can result in intractable rickets. We describe a case of distal RTA with nephrocalcinosis during follow-up of rickets in a patient who presented with clinical manifestations of short stature, failure to thrive, recurrent vomiting, dehydration, and irritability.

Keyword

Distal renal tubular acidosis; Rickets; Nephrocalcinosis

MeSH Terms

Acidosis
Acidosis, Renal Tubular*
Bicarbonates
Bone Resorption
Dehydration
Failure to Thrive
Follow-Up Studies
Humans
Hydrogen-Ion Concentration
Hypercalciuria
Kidney Tubules, Distal
Nephrocalcinosis
Protons
Quaternary Ammonium Compounds
Rickets*
Vomiting
Bicarbonates
Protons
Quaternary Ammonium Compounds

Figure

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  Fig. 1 Skeletal X-ray at two different time points. (A) At the age of 6 years, showing diffuse osteopenia, fraying in the both distal radius and ulna, with fracture of the left tibia and both fibula. (B) At the age of 11 years, showing diffuse osteopenia, fraying of the distal radius and ulna, with fracture of the left tibia and fibula.

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  Fig. 2 Ultrasonography showing increased echogenecity and nephrocalcinosis in the renal parenchyma of both kidneys.

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  Fig. 3 Abdomen and pelvis CT showing multiple calcified lesions in both kidneys. (A) A precontrast axial image showing multiple calcified lesions in both renal parenchyma. (B) A postcontrast coronal image showing multiple calcified lesions in both renal parenchyma and simple cysts in left kidney.

Reference

1. Hochberg Z. Rickets: past and present. Introduction. Endocr Dev. 2003; 6:1–13. PMID: 12964422.

2. Pettifor JM. Rickets and vitamin D deficiency in children and adolescents. Endocrinol Metab Clin North Am. 2005; 34:537–553. viiPMID: 16085158.

3. Holick MF. Vitamin D deficiency. N Engl J Med. 2007; 357:266–281. PMID: 17634462.

4. Kooh SW, Fraser D, Reilly BJ, Hamilton JR, Gall DG, Bell L. Rickets due to calcium deficiency. N Engl J Med. 1977; 297:1264–1266. PMID: 917072.

5. Albright F, Burnett CH, Parson W, Reifenstein EC, Roos A. Osteomalacia and late rickets: Various etiologies met on United States with emphasis on that resulting from specific forms of renal acidosis, therapeutic implications for each etiological subgroup, and relationship between osteomalacia and Milkman's syndrome. Medicine. 1946; 25:399–479. PMID: 20278772.

6. Rodríguez-Soriano J, Vallo A. Renal tubular acidosis. Pediatr Nephrol. 1990; 4:268–275. PMID: 2205272.

7. Nicoletta JA, Schwartz GJ. Distal renal tubular acidosis. Curr Opin Pediatr. 2004; 16:194–198. PMID: 15021201.

8. Lemann J Jr, Litzow JR, Lennon EJ. The effects of chronic acid loads in normal man: further evidence for the participation of bone mineral in the defense against chronic metabolic acidosis. J Clin Invest. 1966; 45:1608–1614. PMID: 5927117.

9. Rodríguez Soriano J. Renal tubular acidosis: the clinical entity. J Am Soc Nephrol. 2002; 13:2160–2170. PMID: 12138150.

10. Batlle D, Haque SK. Genetic causes and mechanisms of distal renal tubular acidosis. Nephrol Dial Transplant. 2012; 27:3691–3704. PMID: 23114896.

11. Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, et al. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet. 2003; 40:115–121. PMID: 12566520.

12. Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci U S A. 1983; 80:2752–2756. PMID: 6405388.

13. Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, et al. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest. 1997; 100:1693–1707. PMID: 9312167.

14. Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet. 2002; 39:796–803. PMID: 12414817.

15. Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet. 2000; 26:71–75. PMID: 10973252.

16. Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, et al. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet. 1999; 21:84–90. PMID: 9916796.

17. Oduwole AO, Giwa OS, Arogundade RA. Relationship between rickets and incomplete distal renal tubular acidosis in children. Ital J Pediatr. 2010; 36:54. PMID: 20699008.

18. Chang CY, Lin CY. Failure to thrive in children with primary distal type renal tubular acidosis. Acta Paediatr Taiwan. 2002; 43:334–339. PMID: 12632787.

19. Minari M, Castellani A, Garella S. Renal tubular acidosis associated with vitamin D-resistant rickets. Role of phosphate depletion. Miner Electrolyte Metab. 1984; 10:371–374. PMID: 6095003.

20. Hou JW. Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in Lowe syndrome. J Formos Med Assoc. 2009; 108:730–735. PMID: 19773212.