López CMB, Ramírez MCA, Flores PEL

Language: Spanish
References: 7
Page: 21-26
PDF size: 210.44 Kb.

ABSTRACT

The diagnosis of nephrocalcinosis is very infrequent, being an irreversible process where calcium is deposited at the level of the basal medulla of the collecting tubes and extends to the interstitium, this increase in calcium deposition causes tubular function to be lost and consequently a decrease in glomerular filtration in the long term. Practically 100% of cases, the diagnosis is made by image and ultrasound is the resource currently used, in which we can observe precisely at the level of renal silhouettes diffuse hyperechogenicity at the level of the medulla. Nephrocalcinosis is an entity that is associated with various diseases; among them a tubulopathy also uncommon: renal tubular acidosis. This tubulopathy is clinically characterized by polyuria, polydipsia, weight, and height arrest that tends to make initial misdiagnoses and at the time of doing the laboratory tests the patient is observed with loss of the capacity of the urinary concentration, hyperchloremic metabolic acidosis and hypokalemia that we do not know how to correlate with the clinical profile. The complexity of the pathophysiology of the distal renal tubular acidosis makes it difficult for us to make the diagnosis late, this has a mediate effect on the recovery of the size basically and if we continue without diagnosis and without alkaline therapy, the patient will eventually evolve to a chronicity until merited replacement treatment. However, in those patients who are diagnosed and treated with a solution based on bicarbonate and potassium in the first month of life, it is specified that a level of the renal parenchyma limits the damage caused by calcium deposition, preventing the disease from progressing, making sure that you do not stop the medication or medical follow-up. As these are extremely rare conditions, we describe two clinical cases of patients with nephrocalcinosis associated with distal renal tubular acidosis who are currently treated at this hospital in a period of time spanning 17 years.

REFERENCES

1. Lacoma LEM, Sánchez LE, Rubio BP. Nefrocalcinosis medular, Imagen Diagn, 2017; 8 (2): 66-67.

2. Escobar L, Mejía N, Gil H, Santos F. La acidosis tubular renal distal: una enfermedad hereditaria en la que no se pueden eliminar los hidrogeniones, Nefrología, 2013; 33: 289-296.

3. Boron WF, Boulpaep EL. Transport of acids and bases. In: Boron WF, Boulpaep EL (eds.). Medical physiology. 3rd ed. USA: Elsevier; 2003. p. 845-860.

4. Heras BM, García-González MA, Valdenebro RM, Molina OA, Callejas MR, Rodríguez GMA et al. Necesidad de estudio genético para el diagnóstico de algunos casos de acidosis tubular renal distal, Nefrología, 2016; 36 (5): 552-555.

5. García Nieto VM, Luis YMI, Tejera CP, Pérez SG, Moraleda MT. La hipercalciuria idiopática revisada. ¿Anomalía metabólica o enfermedad? Nefrologia, 2019; 39 (6): 592-602.

6. Rodríguez SJ. Renal tubular acidosis: the clinical entity, J Am Soc Nephrol, 2002; 13: 2160-2170.

7. 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.