Renal Cystic Diseases - Neonatology - Lecture Slides, Slides of Neonatology

Download Renal Cystic Diseases - Neonatology - Lecture Slides and more Slides Neonatology in PDF only on Docsity! Renal Cystic Diseases Docsity.com Renal Cyst A fluid-filled sac arising from a dilatation in any part of the nephron or collecting duct Docsity.com Simple cysts  Common, usually noted on X ray  Incidence increases with age  Single or multiple  Smooth lining, clear fluid  Usually no impact on renal function  Occasionally hemorrhage
causing pain  Real management issue
distinction from tumour Docsity.com Medullary Sponge Kidney  Pseudocysts in the papillary areas  Congenital dilatation of collecting ducts
ranges from ectasia (appearing on urography as linear papillary striations) to cystic pools (giving a sponge-like appearance on section of the kidney)  Estimated prevalence
1 in 5000  Predisposes to stone formation in the dilated ducts
on plain films, clustering of calcifications in the papillary areas  Associated with other congenital and inherited disorders
1. Beckwith-Wiedemann syndrome (macroglossia, omphalocele, visceromegaly, microcephaly, and mental retardation) 2. Polycystic kidney disease (about 3% of patients with autosomal- dominant polycystic kidney disease) 3. Congenital hepatic fibrosis 4. Caroli’s disease Docsity.com Polycystic Kidney Disease Classification Acquired cystic kidney disease (ACKD)
•Not inherited •Develops in association with long-term kidney problems •Usually appears in later years of life Autosomal Dominant PKD (ADPKD)
•Most common inherited form
90% of all PKD •Symptoms usually develop at age 30 to 40 •Larger cysts form over time and grow in size Autosomal Recessive PKD (ARPKD)
•Rare genetic disorder •Small cysts form
collecting tubules •Symptoms begin
in utero or in the postnatal period Docsity.com ADPKD  Diagnosis usually established by US – Reveals diffuse hyperechogenicity, enlarged kidneys, and cysts, usually bilateral – Criteria for ADPKD: <30 years: at least 2 cyst in one kidney – Prenatal US-kidneys
may look normal or appear enlarged and echogenic – If either parent has ADPKD
finding of enlarged echogenic kidneys in fetus confirms prenatal diagnosis Docsity.com ADPKD  Child presenting in first year of life
do not progress rapidly to End Stage Renal Disease  Most have few or no symptoms
present as adults  Affected children
gross or microscopic hematuria, hypertension, cyst infection, renal insufficiency  Renal insufficiency
develops after age of 30  Transplantation
considered in any ADPKD patient with a life expectancy of more than 5 years and with no contraindications to surgery or immunosuppression Docsity.com Genetic Heterogeneity of APKD Gene Involved Location Proportion PKD1 16p13.3 80-90% PKD2 4q21-23 10-15% PKD3 not mapped rare Docsity.com Characteristics of PKD2  Location
4q21-23.  Encodes a 4 kb mRNA  Encodes for polycystin 2
integral membrane glycoprotein.  Polycystin 1 and 2
function together as part of a multi-component membrane- spanning complex involved in cell-cell or cell-matrix interactions. Docsity.com Polycystin 2  Polycystin 2
six transmembrane spans with intracellular amino- and carboxyl- termini  It has amino acid similarity with PKD1, and the family of voltage-activated calcium (and sodium) channels  It contains a calcium-binding domain Docsity.com Mechanism Of Cyst Formation 1. Mutation(s) leads to changes in epithelial cell behavior 2. Tubule epithelial cells proliferate to form cyst 3. Electrolytes and water accumulate in cyst lumen Docsity.com e @ e oe oe [5] Reduced in PKD pet [1 increased in PKD [2] CFTR ErbBTKls CAML Pc1 — EEE x 2+ Ca2t CMeEK inh) 5S PDE cca a’ ( TSC2/TSC1 Protein pic = translation Y \ Gi Gs G mTOR inh CDK inh * Ra Vasopressin (V1a) Ca?* (CaR) Docsity.com Primary cilium Transitional fibres Centrosome Vesicular transport Microtubules Rough endoplasmic reticulum Focal adhesion Tubule Cell Primary Cilium Kinesin Cytoplasmin dynein IFT particles Crass section of cilia Tight junction Adherens junction Smooth endoplasmic reticulum ErbB receptor Docsity.com Primary Cilium Ciliary membrane / Cilium Transition fibers Terminal plate microtubules Docsity.com ARPKD  Incidence
1:40,000  Typically presents in infancy  Clinical manifestations
hyponatremia during first weeks of life, reduced renal concentrating ability, decreased urinary acidification capacity, metabolic acidosis, recurrent pyuria  Hypertension
common and early  ESRD
usually after 15 yrs of age Docsity.com ARPKD  Neonatal presentation
profound respiratory compromise secondary to oligohydramnios  Older Children (4-8 yrs)
hepatic disease predominates – Approx 23% experience variceal bleeding Prenatal US enlarged kidneys with increased 
echogenicity  Kidney size is typically at least 2 standard deviations greater than normal Docsity.com Multicystic Dysplastic Kidney  Severe form
kidney consists of a group of cysts with some connective tissue, but no identifiable renal tissue  Defect
abnormality of ureteral bud leading to atresia or absence of ureter  Consists of a collection of cysts frequently described as resembling a bunch of grapes No function can be demonstrated
only unilateral involvement is compatible with life  Usually, the contralateral kidney is normal
exhibits compensatory hypertrophy  In some 30% of cases
affected by congenital abnormalities such as dysplasia or pelviureterical junction obstruction Docsity.com MCDK  Role of nephrectomy controversial – Recommended to treat or prevent abdominal/flank pain, UTI, hypertension, or renal malignancy  Lifetime follow
despite involution or nephrectomy secondary to complications – Hypertension, UTI, proteinuria, renal malignancy Docsity.com Other Renal Cystic Diseases  Dialysis-associated cystic disease - small cysts
in patients on long-term dialysis,
due to tubular blockage in scarred kidneys
usually unimportant, but a few undergo malignant change
renal carcinoma  Uremic medullary cystic disease (nephronophthisis)
cysts at CM junction – responsible for 20% CRF in children/adolescents Docsity.com