CF

A GENERAL DYSFUNCTION OF EXOCRINE GLANDS

AUTO R – 7q

1/20 CAUCASIONS ARE CARRIERS

1/2,000 CAUCASIONS AFFECTED, 1/17,000 BLACKS

ABOUT EQUALLY COMMON TO DOWNS AND NF

AVG. SURVIVAL = 29 (MALES AND THOSE WITH PRIMARILY G.I. Sx DO BETTER)

OLD WIVES TALE—-“IF THE BABY TASTES LIKE SALT WHEN YOU KISS IT—-IT WILL NOT LIVE LONG”

WHEEZING IN THE FIRST YEAR OF LIFE

CHILDHOOD NASAL POLYPOSIS

MECONIUM ILEUS-NEONATAL RECTAL PROLAPSE

PANCREATIC INSUFFICIENCY-MALABSORBTION-STEATORHEA—POSSIBLE DIABETES MELITUS

POSSIBLE COAGULOPATHY DUE TO LOW VIT K (A,D,E,K)

COPD, BRONCHIECTASIS, RECURRENT PNEUMONIA

CIRRHOSIS OF THE LIVER, FOCAL BILIARY CIRHOSIS-HEPATOMEGALLY

MALE AZOSPERMIA

SALT WASTING (HYPONATREMIA)- DEHYDRATION

SUBMANDIBULAR GLAND SIALOSIS-FIBROSIS DUE TO INSPISSATED MUCOUS IN THE SECRETORY GLANDS

RECURRENT PULM INFECTIONS: PSEUDOMONAS AERUGINOSA—-S.a—H.inf

INTERESTINGLYNOINCREASED MIDDLE EAR DISEASE

DIGITAL CLUBBING?

DIFFUSE SINOPATHY—HIGH INCIDENCE OF PSEUDOMONAS COLONIZATION

50% OBSTRUCTIVENASAL POLYPOSIS—–90% POST FESS RECURRENCE!

CHRONICPANSINUSITIS–PSEUDOMONAS

ALLERGY INCIDENCE NOT INCREASED

1/3-1/2 FRONTAL SINUS AGENESIS (ALSO UNDER DEVELOPED SPHENOIDS)

MAXILLO-ETHMOID SINUS OPACIFICATION

MEDIAL BULGING OF THE LATERAL NASAL WALL WITH DEMINERALIZATION OR THICKENING OF THE UNCINATE

MAY HAVE LARGE MEDIALLY DISPLACED UNCINATE WHICH LOOKS LIKE THE MIDDLE TURB

REALLY ANALOGOUS TOMAXILLARY MUCOCELES—-DESCRIBED BY DR. DAVIS

NASAL MUCOCELES (MAXILLARY)—VIRTUALLY PATHOGNEUMONIC OF CF

BEWARE OF THE NASOLACRIMAL SYSTEM WHEN YOU OPERATE

OFTEN GET ETHMOIDAL MUCOCELES IN OPERATED PTS—-REQUIRE MULT REVISIONS

PTS WILL PRACTICALLY BEG FOR REVISION SURGERY BECAUSE OF THE RELEIF IT GIVES—SEEMS APPROPRIATE

Dx:

PILOCARPINE SWEAT CHLORIDE TEST (Di Sant Agnese TEST)

GENETIC TEST FOR ABNL CFTR(CF TRANSMEMBRANE REGULATOR) GENE–7q, PHENYLALANINE AT POSITION 508

Rx:

POLYPECTOMY ONLY =>90% RECURRENCE

STEROIDS(SYSTEMIC AND TOPICAL), HTSI,TOBRAMYCIN NASAL IRRIGATIONS

DECADRON ½ MG PER KG

SEND ASPIRATE FOR AEROBIC, ANAEROBIC, AND FUNGAL STUDIES

TOTAL FESS–ABX

CHEST PHYSIOTHERAPY

DIURETICS (ALTER LYTES)

DNAse (PULMOZYME)—INHALER + NASAL SPRAY

ANTIPROTEASES

VITAMINS (ESPECIALLY FAT SOLUBLE A,D,E,K)

PANCREATIC ENZYMES

HFN

ABX—-TOBI INHALANT THERAPY

GENE THERAPY

LUNG TRANSPLANT (SOME ADVISE PRE-TRANSPLANT FESS TO DECREASE BACTERIAL LOAD)

MACROLIDE ANTIBIOTICS (LOW DOSE OVER LONG PERIODS OF TIME)