Create successful ePaper yourself
Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.
Clinic of Neonatology<br />
Department of Pediatrics<br />
Centre Hospitalier Universitaire Vaudois<br />
and<br />
University of Lausanne<br />
Switzerland
32nd week GA<br />
How it began…<br />
• Fetal distress, pathologic CTG<br />
• Manning 6/10, ALI 6<br />
Antenatal transfer to tertiary center
→ Emergency C-section<br />
• Normal adaptation, Apgar 2/(6)/6/8<br />
• Weight 1840 g (P10-50), normal growth<br />
• Minor dysmorphism: ears, clinodactily
BIG PLACENTA…<br />
890g!!!<br />
…BIG PROBLEMS!
What came before…<br />
• Parents refugees from Pakistan<br />
• First medical check @19th weeks GA<br />
• Health and pregnancy check ok, but…<br />
AFP
Fetus…<br />
? Neural tube defect<br />
? Gastric /intestinal/ defect<br />
… or mother?<br />
? Liver: cirrhosis, tumor,<br />
infection<br />
? Embryonic tumor<br />
? Breast cancer<br />
? Retinoblastoma
AFP 94 MoM !!!<br />
No measure of<br />
acetylcholinesterase<br />
Fetus?<br />
46 XY
Fetus? Fetus?
Mother ?<br />
Work up normal<br />
• liver work up and sonography<br />
• abdominal MRI<br />
• breast sonography<br />
• eye examination<br />
Check <strong>placenta</strong> at birth,<br />
check AFP after delivery<br />
No special recommendation for the neonate
1 + 1 = …<br />
CONGENITAL NEPHROTIC<br />
SYNDROME ?!
CONGENITAL NEPHROTIC<br />
Nephrotic syndrome…<br />
• …neonatal onset<br />
• …or diagnosed
• Denys Drash?<br />
• Neurologic signs! Galloway-<br />
Movat? (Nephrosis-Neuronal<br />
Dysmigration Syndrome)<br />
• Pierson?<br />
• Toxi-infectious (TORSCH)<br />
• Congenital nephrotic<br />
syndrome Finnish type<br />
(CNF)?<br />
Differential<br />
→ CNF
• Corticoids<br />
• Immunosupressive ttt<br />
• Massive proteinuria:<br />
Albumin,<br />
Gammaglobulin, high<br />
protein intake<br />
CNF<br />
Prognosis:<br />
• Nephrectomy:<br />
Enalapril and/or<br />
Indomethacin<br />
• Endstage renal<br />
disease at 3-8 month<br />
• Dialysis and renal<br />
tranplantation
No happy ending<br />
Many complications of a<br />
premature baby…<br />
…with CNF<br />
… and treatment side<br />
effects<br />
…severe hyponatremia<br />
… severe hypotension
No happy ending<br />
Many complications of a<br />
premature baby…<br />
- RDS<br />
- PDA<br />
- infections<br />
…with CNF and treatment<br />
side effects<br />
- severe hyponatremia:<br />
fuzzy brain, cystic lesions<br />
- severe hypotension
Geneticists’ point of view<br />
CNF:<br />
• mutation NPHS 1 or NPHS 2, coding for<br />
nephrin (filtration function)<br />
• Autosomal recessive<br />
• Fin maj /fin min : 90% finnish population<br />
• >170 mutations!<br />
… 6 mutations described in Pakistan
Mutation<br />
NPHS1:<br />
c2452G>A<br />
S.<br />
NPHS1/-<br />
A.<br />
NPHS1/NPHS1<br />
H.<br />
NPHS1/-
Never again?<br />
• Known family specific gene? Antenatal<br />
genetic exam<br />
• Screening strategies (Finland)
Finland:<br />
• screening?<br />
Screening<br />
AFP second trimester (>2.5 MOM;<br />
median 8.3 MOM)<br />
• Amniocentesis (33.4 MOM)<br />
• and …
Afterword<br />
1+1= ????<br />
Be curious!
• Proteinuria: antenatal<br />
onset<br />
• Amniotic AFP <br />
• Gigantic <strong>placenta</strong>: >25%<br />
birth weight<br />
• Massive proteinuria:<br />
>20g/l<br />
• Histology: dilatation of<br />
proximal tubules<br />
• NPHS1 mutation<br />
CNF: summary<br />
• Premature birth:<br />
35-38 GW<br />
• Fetal Distress<br />
• Edema, ascites<br />
• Dysmorphic?<br />
Small nose, low ears, flexion<br />
deformities of limb<br />
(<strong>placenta</strong>megaly)
Change language