Congenital Malformations and Chromosomal Abnormalities

Cystic Kidney Disease: Diagnostic Tests

Obligatory medical device diagnostics. Renal ultrasonography (ultrasound examination of the kidneys) – for basic diagnosis. [Polycystic kidney disease: multiple, echo-poor, smoothly circumscribed, cystic structures with typical dorsal sound enhancement; regular sizing of the kidneys by magnetic resonance imaging (MRI) using a standardized protocol in specialized clinics is required to determine the risk of progression (“risk … Cystic Kidney Disease: Diagnostic Tests

Cystic Kidney Disease: Symptoms, Complaints, Signs

The following symptoms and complaints may indicate cystic kidney disease (polycystic kidney disease): Arterial hypertension (high blood pressure). Microhematuria – only microscopically visible blood in the urine. Macrohematuria – blood in the urine visible to the naked eye. Moderate proteinuria (excretion of protein in urine: < 1 g/d). Moderate polyuria – increased urine excretion (volume … Cystic Kidney Disease: Symptoms, Complaints, Signs

Cystic Kidney Disease: Causes

Pathogenesis (disease development) The forms of autosomal dominant polycystic kidney disease (ADPND) are caused by genetic mutations. In most cases, the mutation is in the PKD1 gene; in approximately 15%, the mutation is in the PKD2 gene. An essential mechanism for cyst growth in ADPND is the transport of fluid into the interior of the … Cystic Kidney Disease: Causes

Cystic Kidney Disease: Therapy

General measures Any concomitant medical conditions should be carefully monitored and treated. Blood pressure should be optimally adjusted. Blood lipids (blood fats) should be controlled and, if necessary, brought to a low level. Urine should be checked regularly for urinary tract infections! Nicotine restriction; smoking is harmful to the kidneys! Limited alcohol consumption (men: max. … Cystic Kidney Disease: Therapy

Spina Bifida (“Open Back”): Diagnostic Tests

Obligatory medical device diagnostics. Sonography (ultrasound) in prenatal diagnostics (synonym: fetal sonography; examinations of the unborn child in the womb/prenatal (= before birth)). [Spina bifida can be detected by qualified examiners already in the first trimester (third of pregnancy), i.e. specifically from the 12th week of pregnancy (SSW); otherwise usually in the second trimester between … Spina Bifida (“Open Back”): Diagnostic Tests

Spina Bifida (“Open Back”): Surgical Therapy

1st order Spina bifida aperta: here, the cele (blister-like protrusion; hernial sac) is first incised (sparing the nervous tissue). The spinal cord is gently transferred back into the spinal canal. The spinal canal is closed with a fascial flap. Wound closure is performed in layers or by means of plastic coverage. Myelomeningocele: here, the closure … Spina Bifida (“Open Back”): Surgical Therapy

Spina Bifida (“Open Back”): Prevention

To prevent spina bifida, attention must be paid to reducing individual risk factors. Behavioral risk factors Diet Folic acid deficiency See below “Prevention with micronutrients”. Disease-related risk factors Diabetes mellitus poorly controlled in the early stages of pregnancy. Medication Teratogenic drugs: Antiepileptic drugs – e.g., valproic acid and carbamazepine. Prevention factors (protective factors) Genetic factors: … Spina Bifida (“Open Back”): Prevention

Spina Bifida (“Open Back”): Symptoms, Complaints, Signs

The following symptoms and complaints may indicate spina bifida: Pathognomonic (evidencing a disease). In spina bifida aperta: open, visible malformation. Possible accompanying symptoms of spina bifida aperta (open, visible form). Walking problems Paresis (paralysis) of the legs Paraplegia Bladder and rectal disorders Hydrocephalus (hydrocephalus; pathological enlargement of the liquid-filled fluid spaces (cerebral ventricles) of the … Spina Bifida (“Open Back”): Symptoms, Complaints, Signs

Spina Bifida (“Open Back”): Causes

Pathogenesis (development of disease) During embryonic development, the lower section of the neural tube gives rise to the spinal column (lat.: columna vertebralis) and spinal cord (the upper section of the neural tube develops into the brain and skullcap). Normally, the two arch portions of the vertebrae merge to form a ring. In the vertebral … Spina Bifida (“Open Back”): Causes

Spina Bifida (“Open Back”): Therapy

Conventional nonsurgical therapy methods Catheterization (urinary diversion through a catheter inserted into the bladder) may be used if micturition (bladder emptying) dysfunction is present at the same time. Medication may also be used. Medical aids If applicable, orthotics (orthopedic devices worn on the outside of the body as a support apparatus) for gait development, corsets, … Spina Bifida (“Open Back”): Therapy

Turner Syndrome: Symptoms, Causes, Treatment

Turner syndrome (synonyms: 45,X/46,XX mosaic; 45,X/46,XY mosaic; gonadal dysgenesis; karyotype 45,X; karyotype 46,X iso (Xq); karyotype 46,X with gonosome abnormality, except iso (Xq); mosaic 45,,X/cell lines a. n.k. with gonosome anomaly; Turner anomaly of sex chromosomes; Turner syndrome; Ullrich-Turner syndrome; Ullrich-Turner syndrome (UTS); X0 syndrome; X monosomy; ICD-10 Q96.-: Turner syndrome) is a congenital disorder … Turner Syndrome: Symptoms, Causes, Treatment