Bibliographic Details
| Title: |
Primary renal tubular acidosis during pregnancy, what about the perinatal prognosis? A case report and literature review. |
| Alternate Title: |
Acidosis tubular renal primaria durante el embarazo, ¿qué pasa con el pronóstico perinatal? Informe de un caso y revisión de la literatura. |
| Authors: |
Van Laethem, Johan1 johan.vanlaethem@uzbrussel.be, Seyler, Lucie1, Tonnelier, Annelies2 |
| Source: |
Nefrologia. Apr2025, Vol. 45 Issue 4, p329-336. 8p. |
| Subjects: |
KIDNEY tubules, POTASSIUM chloride, APGAR score, SODIUM bicarbonate, ACIDOSIS |
| Abstract (English): |
Renal tubular acidosis (RTA) is a group of disorders caused by tubular defects leading to defective reabsorption of bicarbonate (HCO3-) and/or secretion of protons (H+). It is known that pregnancy can induce or worsen some forms of RTA. To date, no systematic data exist on the course of pregnancy in hereditary RTA-affected mothers, nor on the outcome of both mothers and children. A 35-year-old female patient attends her routine obstetric follow-up consultation at 32-weeks' pregnancy. From the 6th week of gestation, she has been complaining of general malaise, accompanied by paraesthesia in both hands. She is known to have renal tubular acidosis type 1, carrying a mutation in the SLC4A1 gene encoding for the bicarbonate-chloride exchanger located in the alpha-intercalated cell of the renal collecting tubule. At week 32, serum bicarbonate levels appeared to be 11 mEq/l. The patient was hospitalised and treated with intravenous sodium bicarbonate and potassium chloride. After 5 days, the symptoms resolved, and her bicarbonate level had normalised. A healthy infant was born with a normal Apgar score. Carriage of the same mutation was found in the child at 16 months. Our literature study shows that 12 of the 13 reported infants born from a mother with primary RTA were healthy at delivery. One neonate revealed signs of hyperparathyroidism at day 2, but those signs resolved at 1 month of age. RTA during pregnancy is often associated with decompensation and worsening of acidosis. More attention should be paid to patients with RTA suffering from hyperemesis gravidas, in particular regarding therapy adherence. Our literature review focusses on foetal prognosis, which seems to be favourable in most of the reported pregnancies. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): |
La acidosis tubular renal (ATR) es un grupo de trastornos causados por defectos tubulares que causan la reabsorción defectuosa de bicarbonato (HCO3-) y/o la secreción de protones (H+). Es sabido que el embarazo puede inducir o empeorar ciertas formas de ATR. Hasta la fecha no existen datos sistemáticos sobre el curso del embarazo en las madres afectadas por ATR hereditaria, ni tampoco en el resultado de madres e hijos. Una paciente de 35 años acudió a consulta de seguimiento obstétrico rutinario a las 32 semanas de embarazo. Desde la 6a semana de gestación se había quejado de malestar general, junto con parestesia en ambas manos. La paciente tenía acidosis tubular renal tipo 1, y portaba una mutación en el gen SLC4A1 que codifica el intercambiador de bicarbonatocloruro localizado en la célula intercalada alfa del túbulo recolector renal. En la semana 32a, los niveles de bicarbonato sérico se situaron en 11mEq/l. La paciente fue hospitalizada y tratada con bicarbonato sódico y cloruro potásico intravenosos. Transcurridos 5 días los síntomas se resolvieron, normalizándose su nivel de bicarbonato. Dio a luz a un bebé sano, con puntuación Apgar normal. Se encontró la misma mutación en el bebé, a los 16 meses. Nuestro estudio de la literatura muestra que 12 de entre 13 bebés reportados nacidos de una madre con ATR primaria fueron sanos en el parto. Un neonato reveló signos de hiperparatiroidismo el día 2-, pero dichos signos se resolvieron transcurrido un mes de edad. La ATR durante el embarazo está asociada a menudo a una descompensación y empeoramiento de la acidosis. Deberá prestarse más atención a las pacientes con ATR que padecen hiperémesis gravídica, y en particular en lo relativo a la adherencia a la terapia. Nuestra revisión de la literatura se centra en el pronóstico fetal, que parece ser favorable en la mayoría de los embarazos reportados. [ABSTRACT FROM AUTHOR] |
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| Database: |
MedicLatina |
