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Biomedical subjects

K Kruse

Publications and source records attributed to K Kruse.

At least 109 records · Page 6Linked to original sources
PubMed1985

[Isolated elevation of serum alkaline phosphatase].

The isoenzymes of serum alkaline phosphatase (AP) were determined in 17 children and 3 adults who had transiently or persistently raised serum AP levels without clinical, laboratory or radiographic evidence of hepatobiliary or bone disease. Liver and bone AP were both raised in 8 of 11 children having transient hyperphosphatasia whereas a rise in only one of the two enzymes (liver- or bone-AP) was detected in the serum of children and adults having persistent hyperphosphatasia. Isolated hyperphosphatasaemia is an anomaly having no pathological significance which, when found, has importance since expensive and invasive investigation methods that come into question can be avoided.

Adult↗
PubMed1984

Reference values for urinary calcium excretion and screening for hypercalciuria in children and adolescents.

Hypercalciuria is of continuing interest as one of the risk factors for stone disease in children, but the definition, incidence and pathogenesis are controversial. Therefore reference values for the urinary calcium/creatinine (Ca/Cr) ratios were established in 564 healthy children aged 6-17.9 years during the fasting state (09.00 h) and in 236 of them also in the post-absorptive state about 2 h after lunch (14.00-16.00 h). The Ca/Cr ratios in both urine specimens were independent of age and sex, rendering it possible to determine a common normal range and to calculate centiles for Ca excretion in a large sample of healthy children and adolescents. To provide information about the incidence of hypercalciuria the Ca/Cr ratios of 1013 other apparently healthy children aged 6-17.9 years were measured during the post-absorptive state on two consecutive days. In 39 (3.8%) of them, 21 girls, and 18 boys, the Ca excretion was elevated in both urine specimens. Thirty-six of these children, all presenting without renal complaints, underwent further investigations to elucidate the possible mechanisms of the hypercalciuria. On the basis of the Ca/Cr concentration during the fasting state and the calciuric response to a standardised oral Ca tolerance test the children were subclassified into three groups: (1) Absorptive hypercalciuria (AH, n = 12): Increased calciuric response to the Ca load, but normal fasting Ca/Cr; (2) Renal hypercalciuria (RH, n = 8): Increased Ca/Cr after Ca load and during the fasting state; (3) Normal Ca excretion during the fasting state and after the Ca tolerance test, but increased sodium excretion (dietary hypercalciuria, DH, n = 16).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1984

Parathyroid function in different stages of vitamin D deficiency rickets.

Direct measurements of parathyroid activity are available in only small numbers of children with vitamin D deficiency rickets (VDR). Therefore serum immunoreactive parathyroid hormone (iPTH) and the urinary cyclic adenosine-3',5'-monophosphate excretion (UcAMP) were measured together with other important indices of calcium metabolism in 24 patients (aged 2-42 months) with VDR before vitamin D treatment. iPTH and UcAMP were significantly elevated in comparison to age-matched controls. In patients there was a highly significant positive correlation between iPTH and UcAMP and a negative relationship between both indices of parathyroid activity to serum phosphate and urine calcium, respectively, indicating that the simple measurement of serum phosphate and/or urine cAMP and Ca provides a reliable tool for the assessment of secondary hyperparathyroidism in VDR. In two patients classified as being in the early stage of VDR the parathyroid activity was not elevated despite hypocalcemia indicating relative hypoparathyroidism. Twelve patients with VDR were followed during vitamin D therapy: Within the first 2 weeks of treatment UcAMP slightly increased and thereafter decreased in most patients, but was still elevated in three patients even after 7 weeks, whereas iPTH became normal within 3 weeks of treatment. This favors the concept that vitamin D deficiency diminishes the activation of renal adenylate cyclase by PTH which is overcome by the highly increased PTH secretion in the advanced stages of rickets. The basal and calcium-stimulated serum calcitonin (CT) levels, determined in some of the patients, were normal, ruling out a significant disturbance of CT secretion in VDR.

Calcitonin↗
PubMed1984

Hypogonadism in congenital adrenal hypoplasia: evidence for a hypothalamic origin.

Two unrelated boys with congenital adrenal hypoplasia were followed from birth for 20 yr. In spite of continuous treatment with hydrocortisone and fluorocortisone both patients had delayed growth and bone maturation since early childhood and failure of spontaneous puberty. Tests of the hypothalamic-pituitary function showed low basal plasma LH and FSH levels and blunted LH and FSH responses to standard GnRH tests and increased basal and TRH-stimulated PRL levels. Low dose pulsatile GnRH administration for 26 h, mimicking presumed physiological GnRH secretion, induced a continuing rise of plasma FSH in both patients and a slight increase of plasma LH and testosterone in one patient. These results indicate a hypothalamic origin of the gonadotropin deficiency with possible prenatal onset, since both patients had cryptorchidism during infancy. Hypogonadism in patients with adrenal hypoplasia may result from deficient steroid secretion of the hypoplastic fetal adrenals.

Adrenal Insufficiency↗
PubMed1984

[Physiology and pathophysiology of calcium and phosphate metabolism in newborn infants. Personal study results and literature references].

This description of the physiology and pathophysiology of the calcium and phosphate balance in neonates is based on our own studies and a short review of the literature. In general, the higher the calcium concentration in the umbilical cord blood the greater its decrease during the first two days of life. With asphyxiated newborns the decrease in the serum level of both the total calcium and the ionized calcium surpasses that in nonasphyxiated newborns by approximately a third. There are various causes for neonatal hypocalcemia. The most striking causes for the early form of hypocalcemia are likely to be a transient hypoparathyroidism or a failure of end-organ responsiveness. In nearly all newborns we found a low urinary cAMP excretion on the first day of life increasing significantly until the fourth day. Measurements of the urinary cAMP excretion are an appropriate parameter for recognizing the parathormone effect. By measuring both the parathormone level in the serum and the urinary cAMP excretion it is possible to distinguish hypoparathyroidism from pseudoparathyroidism . Several cases with different forms of hypocalcemia are discussed.

Calcium↗
PubMed1984

[Myopathies in endocrine disorders].

Disorders of the thyroid gland, the parathyroids and adrenals may cause muscle dysfunction. The following features seem to be typical for most of these endocrine myopathies: 1. Usually proximal limb muscles, i.e. pelvic and/or shoulder girdle musculatur, are involved. - 2. Even in cases with severe clinical symptoms morphological abnormalities of the muscles are relatively mild, suggesting that these disorders are mainly functional ones. - 3. The myopathies usually resolve completely with effective treatment of the underlying endocrine disorder. - The pathogenetic mechanisms involved largely remain uncertain. Objective myopathy may be one of the early and dominant features of disorders of the thyroid gland, the parathyroids and adrenals. These endocrine abnormalities have therefore to be taken into account in the differential diagnosis of muscle disorders in childhood.

Addison Disease↗
PubMed1984

[Regression of a massive hydronephrosis in familial central diabetes insipidus treated with Adiuretin].

A ten year old boy with hereditary pituitary diabetes insipidus presented with massive bilateral hydronephrosis, hydroureters and an extremely large bladder. Radiological investigations excluded a mechanical obstruction or vesicoureteral reflux. Treatment with the adiuretin analog DDAVP resulted in regression of the urinary tract changes after 5 months and an almost complete disappearance after 3 1/2 years. The urinary tract dilatation probably results from the large urine flows which exceed the capacity of the urinary tract causing a functional obstruction and residual urine.

Arginine Vasopressin↗
PubMed1983

Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.

Major diagnostic criteria for the Rud syndrome are ichthyosis, hypogonadism, mental retardation, and epilepsy. Two unrelated patients are presented and compared with 28 reported cases. Genetical heterogeneity of the Rud syndrome is suggested by differences in clinical features, histological and endocrinological findings, steroid sulfatase activity, and modes of inheritance.

Child↗
PubMed1983

[Efficient diagnostic procedures in disorders of calcium and phosphate metabolism in childhood].

Investigations of calcium-phosphate-metabolism should be initiated in children displaying conspicuous clinical or radiological symptoms and/or isolated or combined abnormalities of calcium phosphate and alkaline phosphatase in serum. In most cases the investigation of a child with a suspected disorder of mineral metabolism is rapidly and efficiently performed by simultaneous measurements of some indices of calcium metabolism in serum and fasting early morning urine specimens. This is emphazised by presenting a laboratory approach to the differential diagnosis in hypocalcemic and hypercalcemic patients.

Calcium↗
PubMed1983

Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI.

Three variants of the Ehlers-Danlos syndrome type VI are described: a severe form with skeletal, dermal and ocular manifestations associated with a lack of hydroxylysine in skin and little lysyl hydroxylase activity in cultured fibroblasts; a similarly affected form with a nearly normal hydroxylsine content in skin, but with only little enzyme activity in cultured fibroblasts; and a predominantly ocular form with no biochemical abnormality in skin or cultured skin fibroblasts. The activities of prolyl 4-hydroxylase and the two hydroxylysyl glycosyltransferases were normal in all cases, and the failure to find lysyl hydroxylase activity was not due to altered solubility characteristics of the enzyme or to the presence of an enzyme inhibitor. The collagen produced in cell culture, however, was hydroxylated to a markedly higher extent than that found in skin. In both the mutant and control cells hydroxylation of lysyl residues was less sensitive to ascorbate deficiency than that of prolyl residues.

Adolescent↗
PubMed1983

Characterization of a Y/15 translocation by banding methods, distamycin A treatment of lymphocytes and DNA restriction endonuclease analysis.

A de novo 14/21 Robertsonian translocation and a familially inherited Y/15 translocation were observed in a male infant with anomalies of the external genitalia. The Y/15 translocation was confirmed by cultivating lymphocytes in a medium containing distamycin A and by determining the occurrence of the Y-specific DNA sequences by means of Hae III restriction endonuclease analysis. Any connection between the structural chromosomal abnormalities and the symptoms of the infant is highly improbable.

Chromosome Banding↗
PubMed1983

Inherited isolated hyperphosphatasemia.

An 11-year-old girl presented with permanent elevation of serum alkaline phosphatase activity (AP) exceeding 4 times the upper normal limit. Family investigations revealed a persistent increment of AP activity in the father and one of the two sisters, indicating a dominant form of inheritance. Physical examination and laboratory results were normal; isoenzyme studies revealed that the raised serum AP activity was mainly due to an increase of the bone isoenzyme. No disturbance of calcium or phosphate metabolism or morphological alterations of the skeleton could be demonstrated. This indicates an inherited abnormality in the metabolism of bone AP in the absence of disease.

Adult↗
PubMed1983

[Congenital nesidioblastosis. Successful treatment with total pancreatectomy].

A 6,410 g newborn baby suffered from severe hypoglycemia despite therapy with high doses of diazoxide and glucagon as well as intravenous application of glucose. There was no persistent response of blood glucose to continuous infusion of somatostatin. A 85% pancreatectomy was performed at the age of 6 weeks, after biochemical findings had indicated hyperinsulinism. As the hypoglycemia reappeared postoperatively, the child underwent total pancreatectomy. Now, at the age of 9 months, the baby's growth and development is normal under substitution therapy with Pankreon and depot-insulin 0.2 U/kg/day.

Diabetes Mellitus, Type 1↗