Allanson Pantzar McLeod Syndrome

Allanson Pantzar McLeod Syndrome

Article
Kidney & Bladder Health
Diseases & Conditions
+1
Contributed byKrish Tangella MD, MBAApr 02, 2018

The topic Allanson Pantzar McLeod Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Renal Tubular Dysgenesis.

Quick Summary:

  • Renal Tubular Dysgenesis (RTD) is a serious kidney disorder that is found in a developing fetus. Although its prevalence is not known, RTD is more common in children, if the parents are close relatives
  • The causes of Renal Tubular Dysgenesis may either be genetic or non-genetic (acquired)
    • Genetic causes include mutations in the ACE, AGT, AGTR1, or REN genes, which are part of the renin-angiotensin system (a vital body regulatory system)
    • Acquired causes of the disorder include the use of certain medications by the expectant mother as well as abnormalities in the developing fetus, due to congenital disorders (such as hemochromatosis)
  • Some of the other risk factors associated with Renal Tubular Dysgenesis include an older sibling who was born with low amniotic fluid volume, use of certain types of medication by the mother during pregnancy for high blood pressure, and conditions such as fetal heart defects
  • The signs and symptoms of Renal Tubular Dysgenesis before birth include low amniotic fluid in the mother, underdeveloped or absent proximal tubules in the fetal kidney, and abnormalities in the fetal skull bones
  • After birth, the baby may have flat facial features, reduced or no output of urine, large gaps between skull bones, and breathing troubles. Breathing difficulties, respiratory failure, very low blood pressure, and worsening kidney functions are some of the complications that can arise due to Renal Tubular Dysgenesis
  • The diagnosis of Renal Tubular Dysgenesis is typically undertaken in prenatal stages with the help of ultrasonography to check the volume of amniotic fluid, the morphology of the fetal kidneys and skull. A confirmation is done through genetic testing of the fetal cells for RTD
  • The treatment options for Renal Tubular Dysgenesis is to keep the baby free of distress and may include breathing assistance, fresh-frozen plasma infusions, and peritoneal dialysis
  • The prognosis for Renal Tubular Dysgenesis is reported to be poor, with nearly 30% of affected fetuses being stillborn. Many neonates succumb to the condition soon after birth, and very few infants survive into early childhood
  • The inherited form of Renal Tubular Dysgenesis cannot be prevented. Genetic counseling may be helpful for ‘at-risk’ parents, to understand the condition better. The acquired form of RTD may be preventable by measures, such as seeking medical advice regarding alternative medication in place of renin-angiotensin system blockers, for high blood pressure in expectant mothers 

Please find comprehensive information on Renal Tubular Dysgenesis regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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