Osteopetrosis With Combined Proximal and Distal Renal Tubular Acidosis

Bregman, H; Brown, J. Anne; Rogers, Ann H.; Bourke, E.

doi:10.1016/s0272-6386(82)80095-4

Cited by 13 publications

(6 citation statements)

References 16 publications

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“…Although some of them even tend to become obese young adults, the vast majority remain short, a ®nding that is in agreement with previous observations [5]. Also in agreement with previous reports [7] is our experience with alkali therapy received by case 1 who showed only initial improvement of her weight in response to treatment, while her length did not improve signi®cantly.…”

Section: Discussionsupporting

confidence: 93%

Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome

Ismail¹,

Saad

Sabry

1997

European Journal of Pediatrics

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We report three new Kuwaiti patients with carbonic anhydrase II deficiency (CA II) from two unrelated families. Each patient had osteopetrosis, distal renal tubular acidosis, and cerebral calcification. Patients from family 1 (a brother and a sister) had some facial anomalies and delayed development. At the age of 14 months, ultrasound studies in the girl showed medullary nephrocalcinosis which has not been previously described in association with CA II, while cerebral CT scan revealed dilated ventricles. The patient from family 2, who had two previously reported affected siblings, developed bilateral recurrent renal stones and hypercalciuria but no nephrocalcinosis. None of his affected siblings had nephrocalcinosis or urolithiasis. DNA analysis of patients from both families showed that each of them was homozygous for the "Arabic" mutation in the CA II gene. We report new features in three Arab patients with CAII deficiency. Also review all previously reported CA II cases from Kuwait in order to highlight the inter-/intra-familial variability of the disease in this part of the world despite the overwhelming prevalence of the same "Arabic" mutation among the patient population.

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Section: Discussionsupporting

confidence: 93%

Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome

Ismail¹,

Saad

Sabry

1997

European Journal of Pediatrics

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“…These findings indicate that renal acidification is impaired in both the proximal and distal tubules, and this could explain the diverse conclusions reached by different authors regarding the site of the renal acidification defect in CAII deficiency. We feel our patient resembles those described by Vainsel et al [10] and Bregman et al [12] who had a proximal and distal RTA. Our current investigation has permitted a better appreciation of the pathogenesis of this disease (Fig.…”

Section: Discussionsupporting

confidence: 88%

Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification

Nagai

Kooh

Balfe

et al. 1997

Pediatric Nephrology

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Renal tubular acidosis with osteopetrosis is an autosomal recessive disorder due to deficiency of carbonic anhydrase II (CAII). A 3.5-year-old Egyptian boy with osteopetrosis and cerebral calcification has a persistent normal anion gap type of metabolic acidosis (plasma pH 7.26) and a mild degree of hypokalemia. A baseline urine pH was 7.0; ammonium (NH4+) excretion was low at 11 mumol/min per 1.73 m2; fractional excretion of bicarbonate HCO3 (FEHCO3) was high at 9% when plasma HCO3 was 20 mmol/l; citrate excretion rate was high for the degree of acidosis at 0.35 mmol/mmol creatinine. Intravenous administration of sodium bicarbonate led to a urine pH of 7.6, a FEHCO3 of 14%, a urine-blood PCO2 difference of 7 mmHg, NH4+ excretion fell to close to nil, and citrate excretion remained at 0.38 mmol/mmol creatinine. Intravenous administration of arginine hydrochloride caused the urine pH to fall to 5.8, the FEHCO3 to fall to 0, the NH4+ excretion rate to rise to 43 mumol/min per 1.73 m2, and citrate excretion to fall to < 0.01 mmol/mmol creatinine. These results show that our patient had a low rate of NH4+ excretion, a low urine minus blood PCO2 difference in alkaline urine, and a low urinary citrate excretion, but only when he was severely acidotic. He failed to achieve a maximally low urine pH. These findings indicate that his renal acidification mechanisms were impaired in both the proximal and distal tubule, the result of his CAII deficiency.

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“…The renal abnormalities in this syndrome are still incompletely understood. Most patients reported have a mixed or hybrid-type RTA (10)(11)(12)(13)(14)(15). A proximal component was suggested by HC03-wasting at normal plasma concentrations (i.e.…”

Section: Discussionmentioning

confidence: 99%

“…A proximal component was suggested by HC03-wasting at normal plasma concentrations (i.e. a low Tm for HC03-) (12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25). A distal defect, profound in some patients, was evident from their inadequate ability to acidify their urine, even while quite acidotic…”

Section: Discussionmentioning

confidence: 99%

“…The renal response to infused acetazolamide in these patients is of great interest since CA I1 is the only soluble CA isozyme identified in the kidney (7)(8)(9), and its absence apparently is responsible for the mixed or hybrid-type RTA in CA IIdeficient patients (10)(11)(12)(13)(14)(15). However, there have been recent reports of a less well-characterized, membrane-bound luminal CA in the brush border of the proximal tubule of the kidney (1 6,17).…”

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confidence: 99%

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