8enal 1ubular Acldosls (RTA)

* A disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's
blood to remain too acidic
* Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone
disease, chronic kidney disease, and possibly total kidney failure.
The body's cells use chemical reactions to carry out tasks such as turning food into energy and repairing
tissue. These chemical reactions generate acids. Some acid in the blood is normal, but too much acid-
acidosis-can disturb many bodily functions. Healthy kidneys help maintain acid-base balance by excreting
acids into the urine and returning bicarbonate-an alkaline, or base, substance-to the blood. This
"reclaimed" bicarbonate neutralizes much of the acid that is created when food is broken down in the
body. The movement of substances like bicarbonate between the blood and structures in the kidneys is
called transport.
One researcher has theorized that Charles Dickens may have been describing a child with RTA in the
character of Tiny Tim from A Christmas Carol. Tiny Tim's small stature, malformed limbs, and periods of
weakness are all possible consequences of the chemical imbalance caused by RTA.
1
n the story, Tiny
Tim recovers when he receives medical treatment, which would likely have included sodium bicarbonate
and sodium citrate, alkaline agents to neutralize acidic blood. The good news is that medical treatment
can indeed reverse the effects of RTA.

1ypes of 81A
Type 1: CIassicaI DistaI RTA
Type 1 is also called classical distal RTA. "Distal," which means distant, refers to the point in the urine-
forming tube of the kidney where the defect occurs-relatively distant from the point where fluid from the
blood enters the tiny tube, or tubule, that collects fluid and wastes to form urine.
This disorder may be inherited as a primary disorder or may be one symptom of a disease that affects
many parts of the body. Researchers have discovered abnormal genes responsible for the inherited
forms of the disease. More often, however, classical distal RTA occurs as a result of systemic diseases-
diseases that affect many organ systems-like the autoimmune disorders Sjgren's syndrome and lupus,
which also attack the distal tubule.
Type 2: ProximaI RTA
Type 2 is also called proximal RTA. The word "proximal," which means near, indicates that the defect is
closer to the point where fluid and wastes from the blood enter the tubule.
Proximal RTA can also result from inherited disorders that disrupt the body's normal breakdown and use
of nutrients. Examples include the rare disease cystinosis, in which cystine crystals are deposited in
bones and other tissues; hereditary fructose intolerance; and Wilson disease.
Type 3
This term is no longer used. Type 3 RTA is now considered a subtype of Type 1 where there is a proximal
bicarbonate leak in addition to a distal acidification defect.

Type 4: HyperkaIemic RTA
Type 4 is also called hyperkalemic RTA and is caused by a generalized transport abnormality of the distal
tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the
distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it
results in high levels of potassium in the blood instead of low levels. Either low potassium-hypokalemia-or
high potassium-hyperkalemia-can be a problem because potassium is important in regulating heart rate.

Points to Remember
O Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the
urine, which causes a person's blood to remain too acidic.
O Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones,
bone disease, chronic kidney disease, and possibly total kidney failure.
O f RTA is suspected, additional information about the sodium, potassium, and chloride levels in the
urine and the potassium level in the blood will help identify which type of RTA a person has.
O n all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be
needed to address the different underlying causes of acidosis.

How is RTA diagnosed?
* Doctors check the acid-base balance in blood and urine samples.
* f the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the
reason, but additional information is needed to rule out other causes. f RTA is the reason, additional
information about the sodium, potassium, and chloride levels in the urine and the potassium level in the
blood will help identify which type of RTA a person has.
* n all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be
needed to address the different underlying causes of acidosis

Symptoms of RTA

Depending on the type, cause and structure of the kidneys affected, symptoms of renal tubular acidosis may include:

O mpairment of growth

O Kidney stones

O Muscle pain or cramping

O Poor appetite
O Nausea
O Vomiting
O Rapid breathing rate
O Constipation

Decreased Urine Output and Dry Mouth
Renal tubular acidosis may cause dehydration. The deficit in total body water typically leads to decreased
urine output, dry mouth and decreased tear production. Among infants and young children, a noticeable
lack of skin elasticity and fullness may occur.
tered Breathing Pattern
The increased blood acidity associated with renal tubular acidosis can cause an altered breathing pattern
characterized by unusually long, deep breaths. The change in breathing facilitates increased elimination
of carbon dioxide from the blood. Because carbon dioxide contributes to the acidity of the blood,
increased expulsion helps reduce the acid load within the body.
onfusion and mpaired ertness
Acid overload, or acidosis, can adversely affect brain function. Acidosis may cause mental confusion. A
decreased level of alertness may also occur, characterized by sluggishness and inactivity.
Bone Pain and Fragiity
The certain types of renal tubular acidosis interfere with calcium and phosphate metabolism, leading to
poorly mineralized, weak bones. Bone pain may occur along with an increased risk for bone fracture. The
effects of impaired bone mineralization are most pronounced in infants and young children. Affected
youngsters may exhibit defective tooth formation, stunted growth, a misshapen skull, bowlegs, rib cage
deformities and abnormal spine curvature. The term renal rickets describes the bone manifestations
associated with renal tubular acidosis in young children.
eakness and Fatigue
Normal muscle function depends on tightly maintained levels of sodium and potassium within the muscle
cells and in the environment surrounding these cells. Excessive acid can disturb these balances, causing
muscle weakness and fatigue. Among infants with renal tubular acidosis, muscle weakness may present
as an overall lack of muscle tone.
-norma Heart Rhythm
One form of renal tubular acidosis, type 4, causes abnormally elevated levels of blood potassium along
with the high acid levels. Patients with an elevated blood potassium may develop heart rhythm
abnormalities. A racing or irregular heart rate may compromise heart function.

Sometimes, renal tubular acidosis can lead to chronic kidney disease (CKD) and, possibly, kidney failure if not
treated promptly.

Causes of RTA

Causes of renal tubular acidosis may include:
O nherited diseases, such as cystinosis, hereditary fructose intolerance and Wilson's disease

O Autoimmune diseases, such as Sjgren's syndrome and lupus

O Certain drugs like acetazolamide or outdated tetracycline
n any case, the main goal of treatment is restoring balance of acids and bases in the blood. However,
different treatment options may be needed to treat the different underlying causes of renal tubular acidosis.

anagement
Type 1
Treatment with NaHCO3 corrects the Na
+
deficit, restores the extracellular fluid volume and results in
correction of the hypokalaemia. Typical alkali requirements are in the range of 1 to 4 mmol/kg/day.
K
+
supplements are only rarely required. Sodium and potassium citrate solutions can be useful particularly if
hypokalaemia is present. Citrate will bind Ca
++
in the urine and this assists in preventing renal stones.
Type 2
Treatment is directed towards the underlying disorder if possible. Alkali therapy (NaHCO3) and supplemental
K
+
is not always necessary. If alkali therapy is required, the dose is usually large (up to 10 mmols/kg/day)
because of the increased urine bicarbonate wasting associated with normal plasma levels. K
+
loss is much
increased in treated patients and supplementation is required. Some patients respond to thiazide diuretics
which cause slight volume contraction and this results in increased proximal bicarbonate reabsorption so
less bicarbonate is needed.
42paris43 41 Maj4r Types 41 RTA
Type 1 Type 2 Type 4
Hyperchloraemic
acidosis
Yes Yes Yes
Minimum Urine
pH
>5.5 <5.5 (but usually
>5.5 before the
acidosis becomes
established)
<5.5
Plasma
potassium
Low-normal Low-normal High
Renal stones Yes No No
Defect Reduced
H
+
excretion in
distal tubule
Impaired
HCO3 reabsorption in
proximal tubule
Impaired
cation
exchange in
distal tubule