Renal tubular acidosis is little known

• May 1, 2024

"My baby grows at a rate hugely slow , and even at 6 months of age he spent 2 months without growing. Her pediatrician first thought maybe breast milk was not feeding her enough and we had to switch to formula. "

"A week later, with the studies in hand, I learned of the existence of an illness that would forever change my perception of life and my way of acting: renal tubular acidosis (ATR) ".

"I immediately located the best pediatric nephrologist of the City and I made an appointment with him. When he saw the blood and urine studies he confirmed the diagnosis, but he ordered more studies (of bone age and renal ultrasound ) to see how much damage the ATR had done in my little girl's body "...

The above is part of a letter from widespread awareness by a group of mothers with children suffering from renal tubular acidosis, a disease little known even by doctors and pediatricians .

The ATR is not only characterized by low size and weight of the little ones, but, in some cases, it is accompanied by lack of appetite .

There is still no national statistics, but it is estimated that 1 in 10 thousand babies born with ATR.

The treatment can be bicarbonates or citrates, but causes consequences such as gastritis or nausea.

How does renal tubular acidosis (TKA) work?

The kidneys are the organs in charge of eliminating the toxins that the body produces during its daily metabolism. Within these toxins are organic acids, product of these wastes. The ATR is an alteration in the functioning of the kidneys , which fail to maintain the acid-alkaline biochemical balance during the blood filtration process, that is, they do not manage to completely discard these acids and / or fail to adequately reabsorb enough bicarbonate for the proper functioning of the organism.

What does ATR mean?

Acidosis is a increase in the acidity of the blood , which may be due to several reasons. The ATR is one that originates in the tubules of the kidneys, which return acid to the blood instead of eliminating it properly in the urine.

Causes

In children, ATR is usually due to a immaturity of the kidneys at birth , although symptoms may take up to three years to manifest. The ATR can also be presented together with other syndromes. If it occurs in adults, ATR is caused by several diseases, such as lupus, among others, as well as by medications.

symptom Each case of ATR is different and some of the following may occur:

• Delay in development: Height and / or low weight.
• Nausea and / or Vomiting.
• Lack of appetite (called Hyporexia), difficulty chewing.
• Constipation in most cases, or diarrhea.
• Lack of muscle tone, called hypotonia, which leads to delays in motor development.
• Delay in the Psycho-Motor Development (DPM) for example, in the language.
• In some cases, calcium deposits in the kidneys, called Nephrocalcinosis.

Diagnosis

It can be suspected that a child suffers from ATR when you stop growing and / or gain weight . It can also present vomiting, nausea and inappetence.

The ATR is easy to diagnose with blood and urine tests. Subsequently, a renal ultrasound is usually performed to determine if there is nephrocalcinosis; In addition to X-rays of the hands (or hand and foot) to measure bone age, this is checked if there is a delay in the development of the bone system or decalcification.

Types of ATR

1. There are 4 types of ATR:
2. Distal (the most common).
3. Proximal (which requires greater doses of medication for treatment).
4. Hybrid (combination of 1 and 2).
5. Distal form of infrequent with 5 sub-types and which is not usually related to childhood RTAs.

Treatment The Distal ATR is controlled with a citrate solution and the Proximal ATR with a bicarbonate solution. The dose is determined by the nephrologist according to the CO2 levels in the blood and the weight of each patient.

The treatment compensates for the biochemical imbalance in the blood and the loss of bicarbonate, calcium or potassium in the urine, as well as the increase in the amount of citrates in urine (usually low in the distal RTA) in the case of the citrate solution.

Is there a cure? There are stages in growth when the kidneys can mature and begin to function normally on their own:

• Around 7 years old.
• Around 10 years old.
• During puberty.

If they do not, the patient will continue to take the citrate or bicarbonate solution for the rest of their life.

What happens if there is no treatment?

Although the problem is in the kidneys, the acidity in the blood puts the bones at great risk. If the ATR is not treated properly, this excess acid can cause rickets and other deformations.

The deposit of calcium in the kidneys (nephrocalcinosis) can increase if it is not treated and lead to long-term renal failure.

Can patients lead a normal life? Children with ATR can live a perfectly normal life, as long as they take their treatment rigorously. However, they usually have a low immune system and many of them get sick often.

Meet parents of children with ATR at www.acidosistubular.com

Video Medicine: Learn Acid Base: Understanding Acidosis and Hyperkalemia (May 2024).