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Case Reports
. 2011 Jul;26(4):271-4.
doi: 10.5001/omj.2011.66.

Distal renal tubular acidosis, hypokalemic paralysis, nephrocalcinosis, primary hypothyroidism, growth retardation, osteomalacia and osteoporosis leading to pathological fracture: a case report

Case Reports

Distal renal tubular acidosis, hypokalemic paralysis, nephrocalcinosis, primary hypothyroidism, growth retardation, osteomalacia and osteoporosis leading to pathological fracture: a case report

Ramen C Basak et al. Oman Med J. 2011 Jul.

Abstract

Renal tubular acidosis (RTA) is a constellation of syndromes arising from different derangements of tubular acid transport. Recent advances in the biology of urinary acidification have allowed us to discern various molecular mechanisms responsible for these syndromes. RTA often presents as renal stone disease with nephrocalcinosis, ricket/osteomalacia and growth retardation in children with ultimate short stature in adulthood. The case reported here has features of distal renal tubular acidosis (dRTA), hypokalemic paralysis, primary hypothyroidism, growth retardation, osteomalacia and osteopenia leading to stress fracture. All these features presenting in a single case (as in our case) is a rare occurrence, so far other cases of distal renal tubular acidosis (dRTA) have been reported.

Keywords: Hypokalemic paralysis; Metabolic acidosis; Osteoporosis.

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References

    1. Albright F, Burnett CH, Parson W. Osteomalacia and late rickets; the various etiologies met in the United States with emphasis on that resulting from a specific form of renal acidosis, the therapeutic indications for each etiological sub-group, and the relationship between osteomalacia and Milkman’s syndrome. Medicine 1946. Dec;25(4):399-479 10.1097/00005792-194612000-00002 - DOI - PubMed
    1. Batlle D, Moorthi KM, Schlueter W, Kurtzman N. Distal renal tubular acidosis and the potassium enigma. Semin Nephrol 2006. Nov;26(6):471-478 10.1016/j.semnephrol.2006.12.001 - DOI - PubMed
    1. Karet FE. Inherited distal renal tubular acidosis. J Am Soc Nephrol 2002. Aug;13(8):2178-2184 10.1097/01.ASN.0000023433.08833.88 - DOI - PubMed
    1. 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. Jan;21(1):84-90 10.1038/5022 - DOI - PubMed
    1. Nicoletta JA, Schwartz GJ. Distal renal tubular acidosis. Curr Opin Pediatr 2004. Apr;16(2):194-198 10.1097/00008480-200404000-00014 - DOI - PubMed

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