Renal tubular acidosis history and symptoms: Difference between revisions

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==Overview==
==Overview==
Patients with renal tubular acidosis can present with acute or chronic onset of symptoms. Patients usually doesn't have a typical history or symptoms. Common symptoms of renal tubular acidosis include vomiting, dehydration and electrolyte abnormalities with acidosis.
==History==
==History==
The significant information that needs to focused in the history of the patient includes:<ref name="pmid16356241">{{cite journal |vauthors=Ring T, Frische S, Nielsen S |title=Clinical review: Renal tubular acidosis--a physicochemical approach |journal=Crit Care |volume=9 |issue=6 |pages=573–80 |date=2005 |pmid=16356241 |pmc=1414010 |doi=10.1186/cc3802 |url=}}</ref>
* Onset of symptoms acute or chronic
* Associated symptoms and signs from changes in
** Pulmonary
** Cardiovascular
** Neurologic
** Musculoskeletal function
==Symptoms==
==Symptoms==


The clinical manifestations of renal tubular acidosis depend upon the underlying etiology and type of acidosis. The recessive genetic forms present in infancy, the dominant form later in life, and acquired distal RTA may occur at any age based upon the timing of renal tubular injury.
The clinical manifestations of renal tubular acidosis depend upon the underlying etiology and type of acidosis.<ref name="pmid25823989">{{cite journal |vauthors=Santos F, Ordóñez FA, Claramunt-Taberner D, Gil-Peña H |title=Clinical and laboratory approaches in the diagnosis of renal tubular acidosis |journal=Pediatr. Nephrol. |volume=30 |issue=12 |pages=2099–107 |date=December 2015 |pmid=25823989 |doi=10.1007/s00467-015-3083-9 |url=}}</ref>
 
Recessive form — As discussed previously, the recessive genetic form of RTA usually presents during infancy and generally is associated with severe clinical manifestations [2,19]. These findings include:
 
●Severe hyperchloremic metabolic acidosis (serum bicarbonate levels may decrease below 10 mEq/L)
 
●Moderate to severe hypokalemia (serum potassium ≤ 3.0 mEq/L)
 
●Nephrocalcinosis
 
●Vomiting
 
●Dehydration
 
●Poor growth


●Rickets
{| class="wikitable"
! colspan="3" |Type of RTA
!Adult/ Infant
!Symptoms
|-
| rowspan="2" |Distal renal tubular acidosis
| colspan="2" |Recessive form
|Infancy
|
* Severe hyperchloremic metabolic acidosis (serum bicarbonate levels may decrease below 10 mEq/L)
* Moderate to severe hypokalemia (serum potassium ≤ 3.0 mEq/L)
* Nephrocalcinosis
* Vomiting
* Dehydration
* Poor growth
* Rickets
|-
| colspan="2" |Dominant form
|Adults
|
* Common initial finding is renal stone or nephrocalcinosis
* Mild or no acidosis
* Mild to moderate hypokalemia
* Poor growth
* Bone disease
* CKD
|-
| rowspan="4" |Proximal renal tubular acidosis
| rowspan="3" |Isolated proximal renal tubular acidosis
|Transient or sporadic proximal RTA
|Infants
|
* Tachypnea
* Growth failure
* Recurrent vomiting
* Feeding difficulties
* Persistently low serum bicarbonate level
|-
|Autosomal recessive proximal RTA
| rowspan="2" |Adults
|
* Severe hypokalemic
* Hyperchloremic, metabolic acidosis
* Growth retardation
* Ocular abnormalities such as glaucoma, cataracts, and band keratopathy.
|-
|Autosomal dominant proximal RTA
|
* Short stature
* Metabolic acidosis
|-
| colspan="3" |Fanconi syndrome
|
* Hypophosphatemia due to phosphaturia
* Renal glucosuria
* Aminoaciduria
* Tubular proteinuria
* Growth failure
* Episodes of hypovolemia due to polyuria
* Volume depletion
* Bony abnormalities, including rickets and osteomalacia due to hypophosphatemia and low levels of calcitriol (1,25 dihydroxy vitamin D)
* Constipation and muscle weakness
|-
|Mixed renal tubular acidosis (Type 3)
| colspan="2" |Autosomal recessive
|Infants
|
* Features of both distal and proximal RTA
* Osteopetrosis
* Cerebral calcification
* Mental retardation
* Bone fragility
* Growth failure
* Facial dysmorphism
* Conductive hearing loss
* Blindness
|-
| rowspan="2" |Aldosterone deficiency or resistance (Type 4)
| colspan="2" |Resistance
|Adults
|
* Hyperkalemia, hyponatremia and mild acidosis
* Failure to thrive
* Hypotension
|-
| colspan="2" |Deficiency
|Infants
|
* Congenital adrenal insufficiency


●Bilateral SNHL in some cases with mutations of the gene that encodes B1 subunit of the H-ATPase pump (see 'Genetic causes' above)
* Aldosterone synthase deficiency


Dominant form — In comparison with recessive distal RTA, dominant distal RTA is usually associated with milder disease, and presents later in life (often in adolescence and adulthood). The most common initial finding is renal stone or nephrocalcinosis. Patients typically have mild or no acidosis, mild to moderate hypokalemia, and less commonly, poor growth [2,3,19]. Bone disease is a rare finding.
* Pseudohypoaldosteronism distal and 2 (also known as Gordon syndrome)
|}


The clinical manifestations of dominant distal RTA were illustrated in a study of 18 patients from four families [3]. Ten patients had mild acidosis with serum bicarbonate levels that ranged from 15 to 21 mEq/L. The remaining eight patients had impaired urinary acidification, but were not acidotic (serum bicarbonate level ≥ 22 mEq/L). These patients were diagnosed with incomplete distal RTA. All patients with complete RTA had either renal stones or nephrocalcinosis. Only one patient had rickets; the rest of the cases had no evidence of bone disease. Twelve patients had normal serum potassium levels, five had mild/moderate hypokalemia (serum potassium levels between 3.0 to 3.4 mEq/L), and one patient had severe hypokalemia (serum potassium of 2.1 mEq/L). (See "Etiology and diagnosis of distal (type 1) and proximal (type 2) renal tubular acidosis", section on 'Incomplete distal RTA'.)
=== Common symptoms ===
Common symptoms of renal tubular acidosis include:<ref name="pmid22919024">{{cite journal |vauthors=Khositseth S, Bruce LJ, Walsh SB, Bawazir WM, Ogle GD, Unwin RJ, Thong MK, Sinha R, Choo KE, Chartapisak W, Kingwatanakul P, Sumboonnanonda A, Vasuvattakul S, Yenchitsomanus P, Wrong O |title=Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients |journal=QJM |volume=105 |issue=9 |pages=861–77 |date=September 2012 |pmid=22919024 |doi=10.1093/qjmed/hcs139 |url=}}</ref>
* Headache
* Lack of energy
* Nausea, and vomiting
* Mental confusion progressing to stupor
* Persistent tachypnea or hyperpnea to compensate
* Musculoskeletal abnormalities
** Osteomalacia
** Osteitis fibrosa
** Rickets
** O0steomalacia
** Osteopenia


Chronic kidney disease — Chronic kidney disease (CKD), defined as a glomerular filtration rate of <90 cc/min per 1.73 m2, has been reported as a complication of hereditary distal RTA [2]. CKD presents after the pubertal growth spurt and is thought to be due to the combination of nephrocalcinosis, persistent hypokalemia, and repeated episodes of hypovolemia that results in progressive tubulointerstitial injury.
== References ==
{{reflist|2}}

Latest revision as of 01:04, 1 June 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

Overview

Patients with renal tubular acidosis can present with acute or chronic onset of symptoms. Patients usually doesn't have a typical history or symptoms. Common symptoms of renal tubular acidosis include vomiting, dehydration and electrolyte abnormalities with acidosis.

History

The significant information that needs to focused in the history of the patient includes:[1]

  • Onset of symptoms acute or chronic
  • Associated symptoms and signs from changes in
    • Pulmonary
    • Cardiovascular
    • Neurologic
    • Musculoskeletal function

Symptoms

The clinical manifestations of renal tubular acidosis depend upon the underlying etiology and type of acidosis.[2]

Type of RTA Adult/ Infant Symptoms
Distal renal tubular acidosis Recessive form Infancy
  • Severe hyperchloremic metabolic acidosis (serum bicarbonate levels may decrease below 10 mEq/L)
  • Moderate to severe hypokalemia (serum potassium ≤ 3.0 mEq/L)
  • Nephrocalcinosis
  • Vomiting
  • Dehydration
  • Poor growth
  • Rickets
Dominant form Adults
  • Common initial finding is renal stone or nephrocalcinosis
  • Mild or no acidosis
  • Mild to moderate hypokalemia
  • Poor growth
  • Bone disease
  • CKD
Proximal renal tubular acidosis Isolated proximal renal tubular acidosis Transient or sporadic proximal RTA Infants
  • Tachypnea
  • Growth failure
  • Recurrent vomiting
  • Feeding difficulties
  • Persistently low serum bicarbonate level
Autosomal recessive proximal RTA Adults
  • Severe hypokalemic
  • Hyperchloremic, metabolic acidosis
  • Growth retardation
  • Ocular abnormalities such as glaucoma, cataracts, and band keratopathy.
Autosomal dominant proximal RTA
  • Short stature
  • Metabolic acidosis
Fanconi syndrome
  • Hypophosphatemia due to phosphaturia
  • Renal glucosuria
  • Aminoaciduria
  • Tubular proteinuria
  • Growth failure
  • Episodes of hypovolemia due to polyuria
  • Volume depletion
  • Bony abnormalities, including rickets and osteomalacia due to hypophosphatemia and low levels of calcitriol (1,25 dihydroxy vitamin D)
  • Constipation and muscle weakness
Mixed renal tubular acidosis (Type 3) Autosomal recessive Infants
  • Features of both distal and proximal RTA
  • Osteopetrosis
  • Cerebral calcification
  • Mental retardation
  • Bone fragility
  • Growth failure
  • Facial dysmorphism
  • Conductive hearing loss
  • Blindness
Aldosterone deficiency or resistance (Type 4) Resistance Adults
  • Hyperkalemia, hyponatremia and mild acidosis
  • Failure to thrive
  • Hypotension
Deficiency Infants
  • Congenital adrenal insufficiency
  • Aldosterone synthase deficiency
  • Pseudohypoaldosteronism distal and 2 (also known as Gordon syndrome)

Common symptoms

Common symptoms of renal tubular acidosis include:[3]

  • Headache
  • Lack of energy
  • Nausea, and vomiting
  • Mental confusion progressing to stupor
  • Persistent tachypnea or hyperpnea to compensate
  • Musculoskeletal abnormalities
    • Osteomalacia
    • Osteitis fibrosa
    • Rickets
    • O0steomalacia
    • Osteopenia

References

  1. ↑ Ring T, Frische S, Nielsen S (2005). "Clinical review: Renal tubular acidosis--a physicochemical approach". Crit Care. 9 (6): 573–80. doi:10.1186/cc3802. PMC 1414010. PMID 16356241.
  2. ↑ Santos F, Ordóñez FA, Claramunt-Taberner D, Gil-Peña H (December 2015). "Clinical and laboratory approaches in the diagnosis of renal tubular acidosis". Pediatr. Nephrol. 30 (12): 2099–107. doi:10.1007/s00467-015-3083-9. PMID 25823989.
  3. ↑ Khositseth S, Bruce LJ, Walsh SB, Bawazir WM, Ogle GD, Unwin RJ, Thong MK, Sinha R, Choo KE, Chartapisak W, Kingwatanakul P, Sumboonnanonda A, Vasuvattakul S, Yenchitsomanus P, Wrong O (September 2012). "Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients". QJM. 105 (9): 861–77. doi:10.1093/qjmed/hcs139. PMID 22919024.
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