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Saudi Journal of Kidney Diseases and Transplantation
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LETTER TO THE EDITOR Table of Contents   
Year : 2010  |  Volume : 21  |  Issue : 4  |  Page : 752-753
Familial distal renal tubular acidosis presenting as acute quadriparesis

Department of Pediatrics, Lokmanya Tilak Municipal General Hospital, Mumbai, India

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Date of Web Publication26-Jun-2010

How to cite this article:
Zaki SA, Chavan V, Nagotkar L, Shanbag P. Familial distal renal tubular acidosis presenting as acute quadriparesis. Saudi J Kidney Dis Transpl 2010;21:752-3

How to cite this URL:
Zaki SA, Chavan V, Nagotkar L, Shanbag P. Familial distal renal tubular acidosis presenting as acute quadriparesis. Saudi J Kidney Dis Transpl [serial online] 2010 [cited 2022 Aug 16];21:752-3. Available from: https://www.sjkdt.org/text.asp?2010/21/4/752/64671
To the Editor,

Renal tubular acidosis is a disorder of renal acidification characterized by hyperchloremic metabolic acidosis and a normal anion gap. Type 1 RTA is a disorder of the distal nephron resulting in failure to lower urinary pH, due either to excessive back-diffusion of hydrogen ions from the lumen to the blood or to inade­quate transport of hydrogen ions. It can be fa­milial or due to secondary causes like Sjogren's syndrome, chronic active hepatitis and syste­mic lupus erythematosus. [1] Familial cases are mostly autosomal dominant and likely to be a consequence of an inherited defect in the AE1 gene. [2]

A 6-year-old female child presented with weakness of all four limbs, which had evolved over the preceding 12 hours. On admission she was unable to sit or stand. There was no his­tory of difficulty in breathing, bowel/bladder complaints, drug intake, respiratory tract infec­tions, diarrhoea or vomiting. There was no history of fever, trauma or intramuscular in­jections in the recent past. Past history and family history were insignificant. The only po­sitive finding in her general examination was short stature. Her length was 90 cm which was below the fifth percentile for her age and sex. Her weight was 13 kg which is 65% of expec­ted. On enquiry all her family members had short stature [Figure 1]. Father's height- 152 cm, mother's height- 143 cm, elder brother­124 cm (12 yrs). On examination of nervous system higher mental functions, cranial nerves, speech was normal. Motor examination revealed hypotonia with grade 2/6 power in all four limbs. All the deep tendon reflexes were absent. Plantars were bilaterally flexor. Sensory sys­tem examination was normal. Other systems were normal. As the child had short stature, a chronic illness with an acute presentation was suspected. The history of short stature in all the family members gave an additional clue that the disease was probably familial in na­ture. Investigations done in the patient [Table 1] showed hyperchloremic metabolic acidosis, low bicarbonate, hypokalemia, a normal anion gap and alkaline urine despite the acidemia. These were suggestive of distal renal tubular acidosis. Investigations done in the family mem­bers revealed similar defect in the father and elder sibling. Her mother had normal results. Patient was treated with intravenous (IV) pota­ssium infusion. The weakness improved signi­ficantly over next 12 hours. Patient was started on oral potassium citrate solution (2 mEq/kg of bicarbonate/day) and discharged after 5 days.

Type 1 RTA may be associated with hypercal­ciuria, nephrocalcinosis, nephrolithiasis, hypo­kalemia, progressive renal failure, growth re­tardation and metabolic bone disease. [3] The re­nal conversion of 25-hydroxyvitamin D3 to 1, 25-dihydroxyvitamin D3 is impaired causing osteomalacia and rickets. The muscle and joint manifestations in RTA can partly be explained by hypokalaemia and metabolic bone disease. [4] The nephrocalcinosis results from a combi­nation of alkaline urine, hypercalciuria and de­creased urinary citrate.

Treatment includes correction of hypokale­mia and alkali replacement that improves the musculoskeletal symptoms. Early treatment also improves the nephrocalcinosis and prevents recurrence of renal stones and progression to chronic renal failure.

We highlight here the evaluation of a patient with unexplained short stature and hypokale­mia. Although our index case was symptoma­tic the other affected family members were ha­ving the metabolic abnormalities despite being asymptomatic.

   Acknowledgement Top

We would like to thank Dr. Sandhya Kamath, dean of our institution for permitting us to publish this manuscript.

   References Top

1.Paillard Paillard M. Renal tubular acidosis. In: Davison AM, Cameron JS, Grunfeld J, Kerr DN, Ritz E, Winearls CG, eds. Oxford Textbook of Clinical Nephrology, Vol. 2, 2nd edn, Oxford: Oxford University Press, 1998:1063-84.  Back to cited text no. 1      
2.DuBose TD. Autosomal dominant distal renal tubular acidosis and the AE1 gene. Am J Kid Dis 1999;33:1190-7.  Back to cited text no. 2      
3.Caruana RJ, Buckalew VM. The syndrome of Distal (type1) renal tubular acidosis. Clinical and laboratory findings in 58 cases. Medicine 1998; 67:84-99.  Back to cited text no. 3      
4.Harrington TM, Bunch TW, Van den Berg CJ. Renal tubular acidosis. A new look at treatment of musculoskeletal and renal disease. Mayo Clin Proc 1983;58:354-60.  Back to cited text no. 4  [PUBMED]    

Correspondence Address:
Syed Ahmed Zaki
Department of Pediatrics, Lokmanya Tilak Municipal General Hospital, Mumbai
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Source of Support: None, Conflict of Interest: None

PMID: 20587890

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