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At least 19 recordsLinked to original sources
PubMed1976

Muscle weakness in osteomalacia.

The muscle weakness that frequently accompanies osteomalacia and rickets may arise from a variety of causes. Particularly in patients with muscle weakness, identification of the metabolic disorder is important, since effective treatment is often possible.

Calcium↗
PubMed1979

Ontogeny of amino acid reabsorption in human kidney. Evidence from the homozygous infant with familial renal iminoglycinuria for multiple proline and glycine systems.

Seven infants (two French Canadian, four Ashkenazi Jewish, and one Greek) with massive selective hyperiminoglycinuria (proline, hydroxyproline, and glycine) were detected by urine screening in the second week of life. Follow-up investigations and family studies revealed that each subject had a benign condition, familial renal iminoglycinuria, an autosomal recessive condition. The family studies (Table 1 and Fig. 1) indicate the presence of at least two different mutant alleles segregating in this small group of probands. Hmozygotes of two forms and one genetic compound were identified. Quantitative studies revealed normal concentrations of proline and glycine in plasma (Fig. 2), normal maturation of creatinine clearance (as an index of glomerular filtration rate) (Fig. 3), and elevated renal clearance of proline and glycine (Table 2). Fractional excretion (CAA/CCR) of both proline and glycine in the probands was far in excess of that expected for the normal postnatal infant; FFPro and FEGly approached 100% of the filtered load on occasion (Fig. 4). A schedule of maturing tubular reabsorptive activity was apparent in the proband group. Proline reabsorption matured earlier than glycine reabsorption in the homozygotes (and the genetic compound) as it does in the normal infants (Fig. 5). Our findings suggest that three gene products serve net tubular reabsorption of imino acids and glycine in human kidney. One, affected by mutation in our patients, is responsible for a shared transport activity; a second with preference for proline, and not affected by the mutation, has an "early" schedule of postnatal maturation; and a third with preference for glycine, also not affected by the mutation, has a "late" schedule of maturation.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

[The hyperaminoacidurias with special reference to cystinuria].

Increased urinary excretion of free amino acids is a sign which requires determination of the underlying cause. Physiological aspects of tubular transport with emphasis on the role played by transport proteins or carriers are briefly discussed. Subsequently we present a resumptive classification. In prerenal hyperaminoaciduria the urinary excretion of amino acids just reflects the error in amino acid metabolism. Depending on tubular reabsorption of the amino acid involved in the metabolic error three types can be distinguished: the overflow, the competitive and the non-threshold hyperaminoacidurias. Renal hyperaminoaciduria can either be specific for individual or group-related amino acids, or generalized involving all amino acids. With the exception of classical cystinuria the various hyperaminoacidurias have more theoretical than clinical importance. Generalized hyperaminoaciduria is always a symptom of severe tubular disturbance which can be produced by various metabolic diseases, intoxications or deficiency states. Finally we present our experience in the treatment of cystinuria with mercaptopropionyl-glycine.

Amino Acids↗
PubMed1976

Tubular Na, K-ATPase deficiency, the cause of the congenital renal salt-losing syndrome.

In the serum of two infant sisters with a congenital renal salt-losing syndrome, Na was rather low and K considerably increased. Even with Na levels of 126 mval/1, sodium was excreted in the urine. Creatinine and hippurate clearances were normal. Primary disturbances of the steroid metabolism were not detectable; plasma cortisol was normal, aldosterone and renin were compensatorily increased. Treatment with DOCA was unsuccessful. Whereas the first infant died (in another hospital), the second one throve well with high oral substitution of NaCl. There was no pathological findings other than a moderate hyperplasia of the juxtaglomerular apparatus, in a kidney biopsy. Except for minimal activity in the ascending limb of Henle's loop, there was no membrane bound Na, K-ATPase in the microdissected tubules. This finding most probably explains the renal salt loss, as this enzyme is necessary for the transcellular flow of sodium and potassium.

Adenosine Triphosphatases↗
PubMed1977

Cataract in a fetus at risk for oculo-cerebro-renal syndrome (Lowe).

A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule. The lenses were of normal size. Loss of lens material through a lens capsule defect could account for the small discoid lens usually seen in Lowe's syndrome. Amino acids in amniotic fluid had normal concentrations except lysine and proline which were markedly elevated.

Amino Acids↗
PubMed1978

Urinary excretion of a large amount of bound sialic acid and of under sulfated chondroitin sulfate A by patients with the Lowe syndrome.

Urine samples from two patients with the Lowe syndrome were analyzed for sialic acid and mucopolysaccharides. The sialic acid content, relative to the creatinine content, was 4--5 times higher in these patients' urine than in normal urine. Most of the sialic acid was found in unidentified glycoproteins of high molecular weight, but the levels of sialyllactose and free sialic acid were also elevated about 2 fold. A most remarkable finding was the excretion of undersulfated chrondroitin sulfate A without other mucopolysaccharides normally occurring in urine. It is suggested that a disorder in sulfation of mucopolysaccharides is etiologically implicated in the Lowe syndrome.

Child↗
PubMed1979

A short communication. Congenital renal alkalosis.

Patients with idiopathic hypokalemic metabolic alkalosis and hyperrenienmia have been lumped under the heading of Bartter's syndrome. However, the clinical picture is not totally uniform. Recently, Gullner et al. described a familial disorder with hypokalemic metabolic alkalosis, hyperreninemia, and aldosteronism, but without juxtaglomerular hyperplasia. They suggested that this family had a condition other than Bartter's syndrome. The present report details the followup from infancy to adulthood of a patient with hypokalemic metabolic alkalosis, salt wasting, and hyperreninemia, but with normal aldosterone level and without juxtaglomerular hyperplasia. The authors suggest that this new condition be termed renal alkalosis. The studies suggest that the distal tubular reabsorptive capacity was defective in this patient.

Adolescent↗
PubMed1977

[Lowe's syndrome (author's transl)].

Concerning the clinical study, the oculo-cerebro-renal syndroms are well drawn and we nearly could say there is no syndrome of Lowe without a cataract. This conviction puts aside some oculo-cerebro-renal syndroms occured to female and easily called "Lowe's Syndrom". The glaucoma which exists in half of the cases, is scarcely a mechanical type, sometimes it is an usual congenital type with membrane of Barkan, but the more frequently, it is secondary to an alteration of all constitutive elements of the anterior uvea and of the camerular angle. Concerning inheritance, the absence of female cases among the PF observations confirm the recessive transmission attached to the sex, which is, in fact, definively established. Though the search of hererozygote females after an ophtalmological or biochimical observation has no absolute value, it anyway adds some very precious genetic requirements. Concerning the etio-pathogenic study, as we tried to show, the authors agree in simultaneous and contemporary appearance, between the 4th and the 6th month of the intra-uterine life of oculo-cerebro-renal troubles of Lowe's Syndrom and in the existence of a common factor, probably a genetic one. Anyway, we still have to precise the nature of the gene and the inter relations existing between the three injures.

Cataract↗