Year : 1997 | Volume
: 8 | Issue : 1 | Page : 40--42
Nephrocalcinosis and Bartter's Syndrome
Matrouk El Aun, Issa Hazza, Mahmoud Khannan, Imad Khriesat, Hussein Moghrabi, Ola Imam
Department of Nephrology, King Hussein Medical Center, Amman, Jordan
Pediatric Nephrologist, King Hussein Medical Center, P.O. Box 960955, Amman 11196
We report a case of a child with symptoms and signs of Bartter«SQ»s syndrome and nephrocalcinosis. This report discusses the manifestations and management of this rare disease at a very early age.
|How to cite this article:|
El Aun M, Hazza I, Khannan M, Khriesat I, Moghrabi H, Imam O. Nephrocalcinosis and Bartter's Syndrome.Saudi J Kidney Dis Transpl 1997;8:40-42
|How to cite this URL:|
El Aun M, Hazza I, Khannan M, Khriesat I, Moghrabi H, Imam O. Nephrocalcinosis and Bartter's Syndrome. Saudi J Kidney Dis Transpl [serial online] 1997 [cited 2019 Oct 18 ];8:40-42
Available from: http://www.sjkdt.org/text.asp?1997/8/1/40/39402
Bartter's syndrome, a primary renal tubular hypokalemic alkalosis with hypercalciuria and nephrocalcinosis may present in early infancy as failure to thrive, polyuria, polydypsia with intermittent bouts of dehydration. Bartter et al were the first to describe this syndrome in patients, who also had urinary potassium loss, high plasma angiotensin II, impaired concentration of urine, hyperplasia of Juxtaglomerular apparatus and normal blood pressure  . Later, Fanconi et al  reported two children who had hypercalciuria, nephrocalcinosis and bone demineralization in association with the features of Bartter's syndrome. Their findings have been confirmed by subsequent reports ,,, . We report a case of a child who has the rare form of Bartter's syndrome associated with nephrocalcinosis, diagnosed at an early age.
A two-year old girl was referred to our department for evaluation of polyuria and polydypsia of one year duration in order to rule out Bartter's syndrome. She was born at 36 week of gestation with a birth weight of two kilograms, from a first cousin marriage. She continued to develop normally but remained under-weight for her age. At the age of one year, her parents were concerned about the large amount of water she consumed, which reached 3-4 liters a day, and the frequent large amount of urine she voided. There was no family history of similar disease. At presentation to our hospital, her weight was below the 5th percentile, and her head circumference was 50% less for her age. Physical examination showed a bright little girl with normal vital signs and there were no systemic abnormalities. Laboratory results at presentation were as follows:
1. Blood Tests:
K + : 2.0 mmol/1, Na": 140 mmol/1, Cl ": 93 mmol/1, Mg ++ : 1.0 mmol/1, Ca + " : 2.23 mmol/1, Phosphorous: 2.3 mmol/1, Uric Acid: 310 micro mol/L, Urea Nitrogen: 3.5 mmol/1, Creatinine: 66 micmol/1, Alk Phosphatase: 411 i.u, Total Protein: 69 gm/1 and Albumin: 42 gm/1. Blood Gases: PH: 7.69, PCO2: 35, HCO3: 36 mmol/1.
2. Urine Tests
Urine PH:9, Specific Gravity:1.001, Urinary K + : 70 mmol/l Urinary Na +: 20 mmol/l, Urine Mg ++ : 0.9 mmol/l, Urine/Plasma Mg ++ ratio: 0.86, Ca ++ excretion ratio was 35 mg/kg/day and Ca" 1 " +/creatinine was 2.0.
Renal ultrasound: showed evidence of nephrocalcinosis in both kidneys [Figure 1],[Figure 2].
Dehydration test was carried out and results were as follows:[Table 1]
Follow-up of the Case:
The patient was started on Acetylsalysalic acid 100 mg/kg/day; and later was switched to Ibuprofen 10mg/kg/day with potassium supplement. She showed a very good response reflected by improvement of polyuria and polydypsia, increased specific gravity and osmolality of urine, decreased calcium excretion to 13.5mg/kg/day, and decreased urinary loss of potassium.
A veriety of disorders may be associated with polyuria and polydypsia and hypokalemia in infants who fail to thrive. Bartter's syndrome is one of the main causes of such conditions. Urinary excretion of calcium can be used to distinguish Bartter's from Gitelman's syndrome, which is a similar condition characterized by hypomagnesemia and increased urinary loss of Mg ++ , and normo calciuria  . Our patient had hypercalciuria which, confirms the diagnosis of Bartter's syndrome.
Nephrocalcinosis may be demonstrated at the time of diagnosis ,,,, . It developed, despite very early diagnosis, in all 6 patients with Bartter's syndrome reported by Deschenes et al  . Our patient had nephrocalcinosis, which was compatible with the diagnosis of Bartter's syndrome.
The cause of the decreased tubular reabsorption of calcium in Bartter's syndrome is not clear and. may be multifactorial. However, it is believed to be mediated by over-production of prostaglandin PGE2, and that the use of prostaglandin inhibitors may improve the hypercalciuria and may delay renal insufficiency ,,, .
Children with Bartter's syndrome are usually born prematurely, and the disease is diagnosed before the age of 6 years  . Some patients have manifestations of Bartter's syndrome antenatally, when their mothers present with hydramnios, and the diagnosis of Bartter's syndrome was confirmed in the neonatal period  . Our patient was diagnosed at the age of two.
Finally, prostaglandin synthetase inhibitors were beneficial in our case to correct the electrolyte abnormalities and the impairment of urinary concentration. However, this may not reverse the nephrocalcinosis and the probable future renal insufficiency.
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