[Transient neonatal myasthenia gravis]. / Transiente neonatale Myasthenia gravis.

Ten to twenty percent of the offspring of mothers suffering from myasthenia gravis (MG) also develop transient neonatal MG, since maternal antibodies are able to cross the placenta. We report the course of two newborns of a mother with MG and a healthy father. The first pregnancy was complicated during the 3rd trimester by a hydramnion. The newborn presented with generalized muscle weakness, respiratory distress, weak sounding, anaemia, and poor sucking. Mechanical ventilation was necessary. Confirmation of the diagnosis was achieved by the result of repetitive muscle stimulation, showing a typical decrement in the EMG, and measurement of serum antiacetylcholin receptor antibodies. For 3 months, the infant was treated with neostigmin (cholinesterase inhibitor). After 26 days of hospitalization, the patient was released and followed up regularly. Myasthenic symptoms completely resolved. Side effects of the treatment were not observed. The course of the second pregnancy was normal. This second newborn was healthy. Our case report is remarkable for the very different presentation of two children of the same mother with MG during pregnancy and after delivery, with one child developing severe transient neonatal MG, initially requiring intensive care unit (ICU) treatment followed by quick recovery, and one child being healthy. We also present a score for monitoring the clinical course and adjusting anticholinesterase therapy accordingly.

A stepwise approach to the treatment of early onset nephrotic syndrome.

We have retrospectively reviewed our single-center experience of the treatment of early onset nephrotic syndrome (NS). From 1991 to 1998, ten children with NS were treated. Kidney biopsy showed focal sclerosis (n=1), diffuse mesangial sclerosis (n=7), and congenital NS of the Finnish type (n=2). Associated conditions included incomplete Drash syndrome (n=1), Galloway-Mowat syndrome (n=1), and severe mental and motor retardation of unknown origin (n=3). From 1991 to 1997, five children with NS were treated. Bilateral nephrectomy (NX) was performed in three, one patient with severe retardation died at 4 years and NX was not performed in one patient who showed satisfactory growth and development. Three of these children were dialyzed and two were successfully transplanted. One patient was transplanted without previous dialysis. From 1997 to 1998, five children were treated with a regimen that included captopril and indomethacin (CAPTO/INDO). CAPTO/ INDO was successful in increasing serum protein in all patients and producing growth and development in four patients. In two patients CAPTO/INDO was successful only after unilateral NX. Our experience indicates that CAPTO/INDO may be a valuable treatment in patients with early onset NS. An individualized stepwise approach including unilateral NX should be considered to achieve optimal results.

[Personality and rehabilitation in young adults with renal replacement therapy]. / Persönlichkeitsstruktur und Rehabilitation bei jungen Erwachsenen mit Nierenersatztherapie.

To evaluate the personality structure of young adults treated with renal replacement therapy (RRT) since childhood, we studied 36 patients who had commenced RRT before age 18. At the time of investigation 17 patients were dialyzed and 13 had a functioning renal transplant. Of the dialysis patients, 7 had been transplanted previously. These patients were compared to 26 young adults (minimum age 16) with diabetes mellitus type I (DM) of comparable duration. We used the FP1 test (half-form R; 138 items) by J. Fahrenberg to evaluate personality structure in patients and controls. The results show in general very little difference compared to published normal values and only slight differences between the groups studied. However, there was a trend for RRT patients to feel more aggressive and inhibited than patients with DM. Transplanted patients tended to feel more worried about health problems, while hemodialysis patients felt more self-assured than DM patients. Although it is difficult to assess the psychological burdens of chronic illness and the influence of continuing psychosocial support, it seems remarkable that a better than expected psychiatric adjustment has also been reported in other studies of patients with RRT. In conclusion, adult patients with RRT since childhood have a favorable personality profile as measured by self-evaluation with the FP1-R test, inspite of the well-known multiple medical and social handicaps of this patient population.

[Chronic renal failure in childhood]. / Chronische Niereninsuffizienz im Kindesalter.

Chronic renal failure is rare in children. About one child per year per million population reaches terminal renal insufficiency. The breakdown of the excretory and incretory renal function leads to a damage of nearly all organ systems. Growth retardation and renal osteodystrophy are the most important manifestations in childhood. In the predialytic stage, therapy consists in a low protein, high caloric diet with calcium and vitamin D supplementation as well as the parenteral application of erythropoetin and growth hormone. In terminal renal failure, artificial kidney support is necessary either as hemodialysis or peritoneal dialysis. The ultimate aim is a successful transplantation for full rehabilitation. The multiple medical and psychological problems need a good cooperation between family physician and the center of pediatric nephrology.

Neonatal haemochromatosis: report of a patient with favourable outcome.

UNLABELLED: A male newborn was referred on the 2nd day of life because of suspected sepsis. The child became comatose and ventilator dependent owing to progressive hepatic failure with hyperammonaemia. Diagnostic studies revealed an highly elevated ferritin level. The family history was remarkable in that an aunt and a great aunt on his mother's side have idiopathic haemochromatosis. Open liver biopsy showed advanced cirrhosis with cholestasis and excessive hepatocellular siderosis. Concentrations of iron in liver tissue were highly elevated. The child's status improved unexpectedly, and excretory and synthetic liver function gradually returned to normal. CONCLUSION: Neonatal haemochromatosis is not an irreversible disease of iron metabolism but rather a distinct outcome of fetal liver disease which predisposes by an yet unknown mechanism to a derangement of fetoplacental iron handling. If patients survive the initial phase of liver failure, prognosis is largely dependent upon liver cirrhosis and its sequels. The iron overload in this type of haemochromatosis is reversible and not progressive.

Long-lasting hypoxic preservation of porcine kidney cells. Beneficial effect of taurine on viability and metabolism in a simplified transplantation model.

Taurine administered during hypoxia reduced the cell damage due to O2 deficiency markedly. The beneficial effect outlasted the period of reoxygenation. The mechanisms for the improved survival rates are postulated in a reduced osmoregulatory disturbance of cellular integrity, improved Ca2+ homeostasis and induction of accelerated cellular growth processes. We conclude that taurine supplementation of the conventionally used kidney preservation solution (UW) improves this "gold standard" kidney preservation solution markedly.

Protective effect of taurine on hypoxia and reoxygenation-induced damage of human colon cells (HT 29).

In this experimental model, taurine administered during hypoxia markedly reduced the cell damage due to O2 deficiency, and the beneficial effect outlasted the period of reoxygenation. The mechanisms for the improved survival rates are postulated to be a reduced osmoregulatory disturbance of cellular integrity, improved Ca2+ homeostasis and induction of accelerated cellular growth processes. In our simplified cell culture model the UW solution seems to be the most appropriate solution for the cold (hypoxic) preservation of human colon cells. We conclude, that within this experimental model and under these experimental conditions, taurine supplementation of the conventionally used preservation solutions improved the solutions markedly. Considering our previous studies, taurine seems to be a potent endogenous protective agent against cellular deterioration due to hypoxia and reoxygenation.

The mechanisms of taurine mediated protection against cell damage induced by hypoxia and reoxygenation.

Taurine administered during hypoxia markedly reduced the cell damage due to O2 deficiency and reoxygenation. Different mechanisms are responsible for the improved survival of the renal cell cultures. Taurine markedly reduces the osmoregulatory deterioration during hypoxia and reoxygenation. Calcium homeostasis was markedly improved. Ca2+ efflux during hypoxia as well as Ca2+ overload during reoxygenation was significantly reduced by the amino acid. The effect of taurine was partly comparable to the effect induced by Ca2+ channel blockers. One of the effects mainly responsible for cellular protection seems to be the taurine-induced acceleration of cellular growth processes in spite of hypoxia and reoxygenation. The spectrum of cytoprotective effects of taurine predisposes this substance to be a physiological protective agent responsible for cellular homeostasis or enantiostasis.

Diagnosis and treatment of a child with the syndrome of apparent mineralocorticoid excess type 1.

We report the case of a 16-month-old boy who presented with chronic vomiting, failure to thrive, arterial hypertension and medullary nephrocalcinosis. Laboratory results revealed hypokalaemia, metabolic alkalosis, increased urinary potassium excretion and a hyporeninaemic hypoaldosteronism. Chromatographic determination of urinary steroid metabolites showed an abnormal elevation of tetrahydrocortisol and allo-tetrahydrocortisol compared to tetrahydrocortisone; this pattern of urinary steroid excretion is essential for the diagnosis of the syndrome of apparent mineralocorticoid excess type 1 and believed to be a result of the underlying metabolic defect, a decreased activity of the 11 beta-hydroxysteroid dehydrogenase. A second variant, called syndrome of apparent mineralocorticoid excess type 2, has similar clinical features but lacks the typical urinary steroid profile. Therapy with spironolactone resulted in growth, weight gain and blood pressure control.

Phenprocoumon therapy during pregnancy: case report and comparison of the teratogenic risk of different coumarin derivatives.

The case report is about an infant suffering from coumarin embryopathy and coumarin syndrome after its mother underwent phenprocoumon treatment (Marcumar, Falithrom) during pregnancy (until 26th week of gestation). Interestingly, a hearing disorder was diagnosed, which had never been described in context with this substance. The coumarin derivatives warfarin, acenocoumarol and phenoprocoumon were compared with regards to spontaneous abortion rate, perinatal mortality and teratogenic risk. Eye anomalies or malformations seem to appear only under warfarin treatment, whereas CNS-malformations are more frequent under phenprocoumon. As a consequence, phenprocoumon treatment of fertile women seems rather doubtful. Upon discovery of a pregnancy under coumarin treatment, vitamin K should immediately be substituted in order to minimize the risk of anomalies and malformation.

Development of the nervous and cardiovascular systems in low-birth-weight infants fed a taurine-supplemented formula.

An adapted cow's milk formula with or without supplemental taurine (480 mumol/l) was fed for 16 weeks to 20 low-birth-weight infants. In the 2nd and 16th weeks of life, respectively, the following parameters were determined: growth, sonography of heart and brain, ECG, EEG, neurological development and the taurine concentration of plasma and urine. None of the parameters investigated was influenced by taurine supplementation except the urinary taurine excretion. At least according to these data, the addition of taurine to whey-predominant infant formulae seems to be unnecessary for the development of heart and brain function in low-birth-weight infants.

[Plasma separation in severe juvenile dermatomyositis]. / Plasmaseparation bei schwerer juveniler Dermatomyositis.

Because a seven year old boy with severe dermatomyositis failed to respond to a six week treatment course with prednisone (60 mg/m2) and azathioprine (2 mg/kg/d), five plasma separations were performed. Already after the second plasma separation an impressive reduction of skin ulcerations and an increase of muscle strength were noticed. So far there has been no relapse in spite of rapid reduction in the prednisone dosage.