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Detailed information of POLYCYSTIC KIDNEY DISEASE - INFANTILE FORM
POLYCYSTIC KIDNEY DISEASE - INFANTILE FORM
DEFINITION:
A familial nephritis characterized by hematuria, cystic kidneys,
and progressive renal failure.
EPIDEMIOLOGY:
- incidence: 1.6/10,000
- age of onset:
- risk factors:
- familial - autosomal recessive
- chrom.#: 16p13.31-p13.12
- gene: ?
- M = F
PATHOGENESIS:
- disorder results in a tubulointerstitial dysfunction
- disease due to hyperplasia of interstitial portions of the
collecting tubules -> cysts in distal tubules, collecting ducts
- 4 types using clinicopathologic critera:
CLINICAL FEATURES:
- prematurity
- oligohydramnios (Potter syndrome)
- bilateral huge flank masses
2. Hematuria
3. Complications
- Nephritic Syndrome (edema, hypertension, azotemia,
oliguria)
- Chronic Renal Failure
2. Hepatic Manifestations
- hepatomegaly +/- splenomegaly
- cirrhosis +/- hepatic fibrosis, portal hypertension
3. Respiratory Manifestations
- pulmonary hypoplasia
- pneumothorax
- respiratory distress
4. Associated Abnormalities
- cardiovascular, gastrointestinal, genitourinary, central
nervous system, musculoskeletal
INVESTIGATIONS:
- hematuria, tubular proteinuria
- microscope - non-glomerular pattern - normal RBC's with no
RBC casts
2. Renal Biopsy
- LM - distal tubule and collecting duct cysts
- liver - cysts
- fibrosis (congenital hepatic fibrosis)
3. IVP
- cortical and medullary cysts
- (mottled nephrogram)
MANAGEMENT:
- no treatment for underlying disorder
- multidisciplinary approach
- Paediatrics, Nephrology, Gastroenterology, Respirology
2. Medical
- medical management of complications:
- fluid restriction, control hypertension, manage
hyperkalemia, manage pulmonary edema
2. Chronic Renal Failure
- dialysis, renal allotransplantation
2. Hepatic
- complications of cirrhosis
2. Prognosis
- death from either renal or hepatic disease
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Pediatric Database - POLYCYSTIC KIDNEY DISEASE - INFANTILE FORM
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