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Biomedical subjects

R Mallmann

Publications and source records attributed to R Mallmann.

At least 19 recordsLinked to original sources
PubMed2001

Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.

OBJECTIVE: To characterize a rare inherited hypokalemic salt-losing tubulopathy with linkage to chromosome 1p31. METHODS: We conducted a retrospective analysis of the clinical data for 7 patients in whom cosegregation of the disease with chromosome 1p31 had been demonstrated. In addition, in 1 kindred, prenatal diagnosis in the second child was established, allowing a prospective clinical evaluation. RESULTS: Clinical presentation of the patients was homogeneous and included premature birth attributable to polyhydramnios, severe renal salt loss, normotensive hyperreninemia, hypokalemic alkalosis, and excessive hyperprostaglandin E-uria, which suggested the diagnosis of hyperprostaglandin E syndrome/antenatal Bartter syndrome. However, the response to indomethacin was only poor, accounting for a more severe variant of the disease. The patients invariably developed chronic renal failure. The majority had extreme growth retardation, and motor development was markedly delayed. In addition, all patients turned out to be deaf. CONCLUSION: The hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness represents not only genetically but also clinically a disease entity distinct from hyperprostaglandin E syndrome/antenatal Bartter syndrome. A pleiotropic effect of a single gene defect is most likely causative for syndromic hearing loss.

Adolescent↗
PubMed1998

Idiopathic nephrotic syndrome and hexadactyly in two brothers.

Familial idiopathic nephrotic syndrome is rare. Only about 3% of patients have affected siblings. The association of familial nephrotic syndrome with congenital abnormalities is even more uncommon. To our knowledge this is the first report of the association of steroid-sensitive nephrotic syndrome and postaxial hexadactyly in two brothers born to consanguineous parents.

Adolescent↗
PubMed1996

Normal fibrinolytic responses to 1-desamino-8-D-arginine vasopressin in patients with nephrogenic diabetes insipidus caused by mutations in the aquaporin 2 gene.

Three patients with autosomal-recessive nephrogenic diabetes insipidus (NDI), homozygous for mutations in the aquaporin 2 gene (AQP2), were tested for their fibrinolytic and hemodynamic responses to intravenous administration of 1-desamino-8-D-arginine vasopressin (DDAVP). They all showed an increase of tissue-type plasminogen activator antigen, facial flushing, an increase of heart rate and a decrease of diastolic blood pressure. These results confirm the hypothesis that NDI patients with an AQP2 defect can be discriminated from NDI patients with a vasopressin type 2 receptor defect by their normal extrarenal responses to DDAVP.

Adolescent↗
PubMed1995

Lich-Gregoir anti-reflux procedure; indications and results with 283 vesicoureteral units.

While reflux is not the cause of the ascension of microorganisms into the urinary bladder, it enables bacteria to reach the kidney and fosters pyelonephritis, persistent infections and nephropathy with all related consequences. The efficiency of the Lich-Gregoir antireflux procedure must be judged by its results. The criterion of success in operations upon 225 children (283 vesicoureteral units) is the procedure's positive effect on renal growth and physical development of the patients by controlling pyelonephritis and the elimination of recurrent supravesical infections in more than 98 per cent of children operated upon.

Adolescent↗
PubMed1994

Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.

We describe a family of Turkish origin with adenine phosphoribosyltransferase (APRT) deficiency and renal stone disease. The proband had 2,8-dihydroxyadenine urolithiasis but an older sister, who was also deficient in enzyme activity, is so far asymptomatic. The proband was homozygous for a 7-bp deletion in exon 3 of the APRT gene. One allele from each of the parents also contained this deletion. The patient and her father were homozygous for an intragenic TaqI RFLP (1.25-kb fragment) whereas the mother was heterozygous (1.25- and 1.91-kb fragments), indicating that the mutation was present on the allele carrying the 1.25 kb TaqI fragment. The deletion alters the reading frame downstream of codon 93 and would be expected to abolish enzyme activity.

Adenine↗
PubMed1994

Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described. Recently, mutations in the autosomal gene coding for water-channel aquaporin 2 (AQP2) of the renal collecting duct were reported in an NDI patient. In the present study, missense mutations and a single nucleotide deletion in the aquaporin 2 gene of three NDI patients from consanguineous matings are described. Expression studies in Xenopus oocytes showed that the missense AQP2 proteins are nonfunctional. These results prove that mutations in the AQP2 gene cause autosomal recessive NDI.

Amino Acid Sequence↗
PubMed1992

[Reflux nephropathy: decreased renal function and osteodystrophy].

In the early stages of chronic renal failure in childhood renal osteodystrophy is a therapeutic challenge, since in childhood it is mainly growth that is affected. The clinical appearance, pathophysiology and therapy are discussed with reference to an actual case of reflux nephropathy in a child.

Calcitriol↗
PubMed1991

Determination of tumor necrosis factor alpha (TNF alpha) and interleukin 2 (IL 2) in women with idiopathic recurrent miscarriage.

Some recurrent miscarriages may be due to a host versus graft reaction. Elevated Interleukin 2 (IL2) levels have been found during pregnancy and elevated TNF alpha levels during acute rejection crises of allotransplantats and so we determined IL2- and TNF alpha levels in women with recurrent miscarriages. Samples were taken for serum TNF alpha and IL2 radioimmunoassays (IRE Medgenix, Belgium) from 28 healthy non-pregnant women and in 49 women with at least 3 miscarriages between the 6th and 14th week of pregnancy, 38 women having their first or second miscarriage and 42 pregnant women with no complications. In women with recurrent miscarriage an increase in TNF alpha (P less than 0.05) and a decrease in IL2 serum levels (P less than 0.05) was found compared to women with normal pregnancies. These results support the concept that disturbances of immune tolerance of the fetus may account for some cases of recurrent miscarriage.

Abortion, Habitual↗
PubMed1991

Investigations into a possible immunological origin of idiopathic non-immune hydrops fetalis and initial results of prophylactic immune treatment of subsequent pregnancies.

The cause of the non-immune hydrops fetalis (NIHF) remains unsettled despite all efforts. From the immunological point of view of pregnancy as a successful course of an allograft, it would seem possible that the idiopathic NIHF can be caused by an immunologic disorder in the meaning of a host-versus-graft reaction. Of 324 cases of prenatally diagnosed NIHF, 49 (15.1%) could be classified after exclusion of all other causes as idiopathic and in 38 patients, as well as in 38 age- and parity-paired controls, a differentiation of HLA-antigens and a determination of lymphocytotoxic antibodies using the NIH Prolonged Incubations and Cold-Complement-Dependent Cytotoxicity Test (CoCoCy Test) were performed. In cases of idiopathic NIHF, the proportion of parents sharing 4 or 5 HLA antigens was increased significantly (p less than 0.05) compared with the control group. In women with idiopathic NIHF, the incidence of lymphocytotoxic antibodies was decreased, due to the test system used; between 28 and 68% in the NIHF group and 24-80% in the control group. The proportion of women without lymphocytotoxic antibodies was increased in the NIHF group by 72% to 52%, whereas in the control group, in none of the patients could a higher cytotoxicity with a lysing rate of more than 75% be detected. In 8 cases of idiopathic NIHF, where an increased paternal histocompatibility and a decreased incidence and percentage of lymphocytotoxic antibodies were determined, an immunotherapy was performed in order to induce maternal blocking antibodies.(ABSTRACT TRUNCATED AT 250 WORDS)

Antilymphocyte Serum↗
PubMed1991

[Comparison of thyrotropin (TSH), thyroxine (TT4) and triiodothyronine (TT3) concentration in capillary and venous blood serum in children and adolescents].

The thyrotropin, thyroxine and triiodothyronine concentration was compared in sera from capillary and venous blood (n = 50) using a luminescence-enhanced enzyme immuno assay. The results showed a good correlation (TSH, r = 0.991, TT4, r = 0.988, TT3, r = 0.975) and a linear relationship. It is concluded that serum of capillary blood can be used for the in vitro diagnosis of thyroid function.

Adolescent↗
PubMed1989

[Problems and characteristics of the orthodontic treatment of a patient with adrenogenital syndrome].

This article describes biochemical relationships accompanying pathological symptoms of C-21-hydroxylase deficiency (adrenogenital syndrome). Disturbances of bone growth and development have been observed, even during medical treatment. A discrepancy of 2 1/2 years was noted between the patients chronological age and his bone development. The patient reaches a maximum height of 155 to 160 cm. Supernumeraries and delayed mineralisation are to be expected. Surgical procedures require an increase in cortisone dosage. When considering orthodontic treatment, one must determine the most appropriate time to start, take into account the long retention period and pay particular attention to oral hygiene.

Adolescent↗
PubMed1989

[Circadian rhythm of cellular and humoral immunologic parameters].

From 8 o'clock AM to 6 o'clock PM every two hours in 22 healthy volunteers the following examinations were done: 1. lymphocyte transformation test using the mitogens PHA, Con A and PWM, 2. immunosuppressive activity of the serum on the mitogen-induced lymphocyte transformation, 3. determination of the serum levels of cortisol and human growth hormone (hgH). In the morning the mitogenic lymphocyte transformation was on the lowest and at 4 o'clock PM on the highest level. In opposite to this the immunosuppressive activity of the serum an the serum level of cortisol reached the highest level in the morning and decreased to the minimum at 4 resp. 6 o'clock PM. These findings can be interpreted at least for these parameters in the meaning of a reduced cellular and humoral immunity in the first part of the day, which is confirmed from further results in the literature.

Circadian Rhythm↗
PubMed1988

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis.

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by different proportions of cystic dilated collecting ducts invariably associated with congenital hepatic fibrosis. Because of the nearly regular arrangement of nephrons and collecting ducts, disturbances have been postulated to act rather late on embryological grounds. Prenatal diagnoses seem to confirm this observation, as can be demonstrated in our cases and those reported in the literature. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ARPKD; oligohydramnios is characteristic but not always present. Repeated sonographic measurements of the kidney length seem to be the most useful parameter. As differential diagnoses, autosomal dominant polycystic kidney disease as well as Meckel syndrome have to be taken into consideration. The prognosis of cases with oligohydramnios is usually poor. In genetic counselling, the possibility of prenatal diagnosis in the second trimester of pregnancy should be given with caution.

Amniotic Fluid↗
PubMed1988

Antireflux procedure by Lich-Gregoir. Indications and results.

Reflux is not the cause of the ascension of microorganisms into the urinary bladder, yet it enables bacteria to reach the kidney and fosters pyelonephritis, persistent infections and nephropathy with all its consequences. The efficiency of the Lich-Gregoir antireflux procedure has to be judged by its results. The criterium of operative success in 190 renal units (146 children) is the positive influence on renal growth and physical development by controlling pyelonephritis and eliminating recurrent supravesical infections in more than 98% of the operated children.

Child↗
PubMed1987

Circulating serum phenylalanine concentrations and the effect of arginine infusion on plasma levels of growth hormone and insulin in treated phenylketonuric children.

According to desired phenylalanine (Phe) levels of 50-80 mg/l during treatment, three groups of patients with classical phenylketonuria (PKU) (5.3-17.1 years) were formed. They were investigated for their growth hormone (GH) and insulin response to arginine infusion: Group I (N = 5) had Phe levels below (22 +/- 4 mg/l), group II (N = 3) within (61 +/- 6 mg/l), and group III (N = 3) above therapeutic limits (156 +/- 3 mg/l). Nine children (5.2-14.5 years) with short stature served as controls. Whereas group I and II PKU children showed normal GH response to arginine infusion, group III children exhibited impaired GH response expressed as integrated GH response (218 +/- 38.6 micrograms X 1(-1) X 2 h vs 911 +/- 145 micrograms X 1(-1) X 2 h; P less than 0.01) or peak GH response (6.6 +/- 1.2 micrograms/l vs 18.7 +/- 2.3 micrograms/l; P less than 0.05). Integrated insulin responses did not differ between the three PKU groups but were significantly higher in all PKU patients compared with controls (4903 +/- 421 mU/l vs 2750 +/- 378 mU/l; P less than 0.01). However, this reflects impaired insulin secretion in children with constitutional delay of growth and adolescence rather than hyperinsulinism in PKU patients.

Adolescent↗