The diagnostic value of ultrasound in cystic kidney diseases

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1 Peitr Nephrol (2010) 25: DOI /s EDUCATIONAL REVIEW The ignosti vlue of ultrsoun in ysti kiney iseses Uo Vester & Birgitt Krnz & Peter F. Hoyer Reeive: 29 My 2008 /Revise: 4 August 2008 /Aepte: 5 August 2008 /Pulishe online: 23 Septemer 2008 # IPNA 2008 Astrt Renl ysts in hilhoo n e foun in vriety of iseses, whih n e ongenitl or quire, or renl ysts my e prt of multiorgn isese or restrite to the kineys only. Ultrsonogrphy is the first-line ignosti tool n is informtive in mny ses. However, there is ro spetrum in the sonogrphi pperne of renl ysts, n fmily or geneti stuies, serh for extrrenl orgn involvement, or itionl imging molities my e require to mke efinitive ignosis. The im of this rtile is to summrize the ignosti potentil n limittions of ultrsonogrphy n epit typil exmples of the most importnt ysti entities. Keywors Renl ysts. Cysti kiney isese. Ultrsoun. Chilren. Dignosis Introution Cysts re efine s spheril, flui-fille, thin-wlle strutures tht my e single or multiple. With the wiespre vilility of ultrsoun, renl ysts in hilren n e ignose uring the mother s pregnny or erly hilhoo. There is no universlly epte lssifition for renl ysts, n oring to reent textook: it ppers likely tht ysti iseses of the kiney will e repetely relssifie with future insights into their pthogenesis [1]. We hve followe proposl to lssify evelopmentl isorers of the kineys to ifferent stges of nephrogenesis [2], s follows:. Renl ysti iseses lssifie to the time they evelop in reltion to the stge of nephrogenesis 1. Before nephrogenesis: Multiysti ysplsi 2. Erly uring nephrogenesis: Dysplsti kiney with ysts Isolte As prt of synromes With ostrution 3. After nephrogenesis: Systemi ysti renl iseses Autosoml reessive Autosoml ominnt Nephronophthisis Meullry ysti isese 4. Misellneous: Isolte ysts Aquire renl ysts Cysts within tumors Metoli iseses It is the im of this pper to summrize the tehnil requirements n sonogrphi imges of renl ysti iseses n give exmples of entities tht shoul e fmilir to the peitri nephrologist. U. Vester (*) : B. Krnz : P. F. Hoyer Chilren s Hospitl, University of Duisurg-Essen, Hufelnstr. 55, Essen, Germny e-mil: uo.vester@uk-essen.e Tehnil requirements Ultrsoun fulfills the requirements of n iel ignosti tool in hilhoo: it oes not expose the ptient to

2 232 Peitr Nephrol (2010) 25: rition or ontrst mei, it n e repete esily, it oes not nee ptient preonitioning, n it offers goo sensitivity n speifiity. In ition, ultrsoun llows fmily sreening when inite, with the sme vntges. However, stnrize n ontinuous opertor trining is essentil, s it my reue the opertor epeneny of ultrsoun. The kineys n e visulize from oth sies in supine position. In oler ptients, the exmintion is mostly omplete from the k with the ptient in the prone position. Beuse of the well-efine interfe to the surrouning tissue, ultrsoun ientifition of ysts llows their visuliztion own to size of 1 mm. Moern ultrsoun equipment shoul inlue proes suitle to epit the spetrum of renl iseses through the whole peitri ge rnge. This requires setor proe n liner proe of t lest 8 MHz for infnts n 4-MHz setor proe for olesents. Cysts in the kineys re usully ientifie with the B-moe sn only, ut moern tehnil filities suh s Doppler or hrmoni moe my llow esier orienttion or inrese sensitivity. It is importnt to emphsize tht ultrsoun in hilren with renl ysts shoul not e restrite to the kineys, euse multiorgn involvement in systemi ysti isese or synromes shoul lwys e ntiipte n inlue in the ignosti workup. Other imging molities my itionl informtion, suh s mgneti resonne imging (MRI) in extrrenl orgn involvement or within interventionl stuies [3, 4]; riologil stuies my help epit urologil pthologies, suh s vesioureterl reflux; n sintigrphy helps mesure renl funtion [5]. The growing knowlege of the geneti sis of ysti kiney iseses llows ientifition of hereitry origin [6]. Renl ysti iseses Multiysti renl ysplsi. Multiysti renl ysplsi or multiysti ysplsti kiney is the most ommon ysti mlformtion of the kiney mong infnts. It is foun in pproximtely 1 in 4,000 live irths [7]. On ultrsoun, the multiysti kiney typilly onsists of severl vrilesize ysts without ientifile renl prenhym etween these ysts (Fig. 1,). The ureter is treti in most ses, n the multiysti kiney oes not show resiul funtion. Bilterl isese is ftl in the neworn perio, ut usully only one kiney is ffete. Most ses of multiysti renl ysplsi re suspete uring prentl ultrsoun exmintion n shoul e followe fter irth. Ultrsoun often llows ifferentition from severe hyronephrosis. However, in outful ses, sintigrphy to etet resiul funtion or ringe my e inite [5]. As involution of the multiysti ysplsti kiney is frequently oserve [8], whih n e followe sonogrphilly, routine nephretomy is not reommene n is reserve for some ses with hypertension or mlignnt trnsformtion (Fig. 1), or ses with n exeptionlly lrge ysti kiney Fig. 1 Multiysti ysplsi: mrosopi pperne; typil exmple of sonogrphi pperne; multiysti kiney with nephrolstom (mrke with lipers); gint-size multiysti kiney (pproximtely 900-ml volume) in 2-yer-ol girl, rossing the miline (trnsverse setion, * verterl olumn) *

3 Peitr Nephrol (2010) 25: Fig. 2 Renl ysplsi with ysts: ysplsti kiney with single n smll yst (13-yerol oy, retinine 2.0 mg/l); ysplsti kiney with numerous ysts (2-week-ol oy, enstge renl filure within first yer of life);, ysplsti kineys with ysts n ifferent funtion ( 6-yer-ol ptient, retinine 0.64 mg/l; 5-weekol ptient, retinine 2.0 mg/l, en-stge renl filure t 6 months) (Fig. 1). As even fter sonogrphi involution remnnt of the multiysti kiney n e expete, long-term follow-up seems visle [9]. The ontrlterl kiney shoul reeive speil ttention, s this kiney shoul hypertrophy to gurntee norml renl funtion n hs een shown to hve n inrese iniene (20 40%) of minor mlformtions, suh s vesioureterl reflux [10 12]. Usully, multiysti ysplsti kiney is n inientl fining, ut fmilil ourrene hs een esrie [13]. Renl ysplsi with ysts. Renl ysplsi is histologil entity with unifferentite prenhym with or Fig. 3 Phenotypi vriility of renl ysplsi n ysts in fmily with three silings n heptoyte nuler ftor (HNF) 1β-muttion (mother hs renl ysts, retinine of 1.5 mg/l n uterus iornis):, inex se (oy, en-stge renl filure within 10 months) ( multiysti ysplsi on the right sie; ysplsi without ysts on the left sie); sister, retinine 1.0. mg/l t the ge of 1 yer, ysplsi with ysts; intruterine enlrge kineys in thir hil, resemling utosoml reessive polyysti kiney isese (ARPKD)

4 234 Peitr Nephrol (2010) 25: Fig. 4 Renl ysplsi with ysts n urinry trt iltion (CAKUT ongenitl nomlies of kiney n urinry trt):, oy with urethrl vlves n impire renl funtion (retinine 1.5 mg/l) t the ge of 6 weeks ( ilte ureters n thikene ler wll, ysplsti right kiney with smll ysts); girl with uplex olleting system: the smll upper kiney pole shows ysti ysplsi n the lower pole norml prenhym; upper kiney pole in uplex olleting system, with lk of ortiomeullry ifferentition in the upper pole, initing ysplsi without ysts without ysts. Renl histology is hrterize y poorly ifferentite glomeruli, typil tuuli, or nonrenl-tissuelike rtilge [14]. Renl ysplsi n ffet one or oth kineys or my e segmentl in some ses. Renl funtion of the ffete kiney is more or less reue; in ilterl ses, progressive loss of funtion my le to renl filure. In lrge series, renl ysplsi is one of the leing uses of en-stge renl filure in hilhoo [15]. Therefore, monitoring renl funtion is more importnt thn repete ultrsoun exmintions. Fig. 5 Autosoml reessive polyysti kiney isese (ARPKD) in neontes: 2- week-ol oy with typil ehogeni spots representing smll ysts; 2-week-ol girl with supsulr rush-like pperne of ilte olleting uts; girl with gint-size kineys n ARPKD; sme ptient s in : trnsverse ominl setion with enlrge kineys touhing in the miline (* verterl olumn)

5 Peitr Nephrol (2010) 25: Fig. 6 Autosoml reessive polyysti kiney isese (ARPKD) in vne ses: 8-yer-ol oy with peritonel ilysis n portl hypertension left longituinl view with n enlrge spleen, free ominl ilysis flui, n polyysti left kiney; holngioysplsi in the sme ptient (lter reeive suessful omine kiney liver trnsplnttion); 9-yerol girl with thikene periportl ehogeniity s sign of periportl firosis (trnsverse liver sn); numerous mrosopi ysts in the kiney of the sme girl (ysts re muh lrger thn in neontes with ARPKD) Renl ysplsi with ysts my our sporilly or s prt of vriety of synromes. A reent textook of peitri nephrology lists 78 synromes, mny of whih n e Fig. 7 Typil sonogrphi imge of utosoml ominnt polyysti kiney isese (ADPKD): 10-yer-ol girl (fther ADPKD); 11- yer-ol oy (fther ADPKD) suspete fter reognition of ssoite mlformtions [16]. Therefore, silings of some ffete hilren my nee to e sreene to exlue fmilil forms of renl ysplsi. A typil sonogrphi feture of renl ysplsi is the lk of norml renl rhiteture, espeilly the ifferentition etween ortex n meull. Ehogeniity of ysplsti kiney is usully enhne, n ysts my e rre or numerous (Fig. 2,). Sonogrphi pperne oes not neessrily orrelte with renl funtion (Fig. 2,). It shoul e stresse tht istint phenotype nnot e expete regulrly within the sme synrome, s shown in Fig. 3. In these three silings with muttion of the heptoyte nuler ftor (HNF)-1β enoe y the TCF2- gene re shown. The phenotypi ifferenes re ovious etween right n left kiney in one ptient (Fig. 3,) n etween the silings (Fig. 3,). HNF-1β muttions re foun in up to 30% of unselete hilren with renl ysplsi n re frequently ssoite with mturity-onset ietes of the young (MODY) type 5 n urogenitl normlities [17]. Renl ysplsi with or without ysts in omintion with urinry trt normlities is lle CAKUT (ongenitl nomlies of kiney n urinry trt) [18 20]. In Fig. 4,, ysplsti kiney in omintion with urethrl vlves is shown. Figure 4, epits two hilren with uplition of the ureter n ureteroele with ysplsti prenhym of the upper renl pole, in Fig. 4 with n in Fig. 4 without ysts. Autosoml reessive polyysti kiney isese (ARPKD). Autosoml reessive polyysti kiney isese (ARPKD) is

6 236 Peitr Nephrol (2010) 25: Fig. 8 Autosoml ominnt polyysti kiney isese (ADPKD) resemling utosoml reessive polyysti kiney isese (ARPKD): 3-yer-ol oy with enlrge kineys n smll ysts; fther (38 yers) of ptient in with multiple liver ysts n ADPKD; 3- week-ol girl, oligohyrmnios, hypertension, smll ysts in lrge kineys, with lulte totl kiney volume of ml (norml vlue < 40 ml oring to [49] mother ADPKD); isolte spleen yst in the sme girl use y muttions in the PKHD1-gene on hromosome 6 [21 23]. The linil spetrum of ARPKD rnges from intruterine eth to erly renl filure n hypertension or preserve renl funtion into ulthoo [24]. In pre- n postntl ultrsoun, the kineys pper grossly enlrge, with inrese ehogeniity n reue ortiomeullry ifferentition [25, 26] (Fig. 5 ). Renl ysts re onfine to the olleting uts n re usully so smll tht their size in infny is lose to the resolution pity of ultrsoun. In vne ses, renl ysts my eome igger, n progressive hepti firosis will le to portl hypertension with splenomegly (Fig. 6 ). Follow-up ultrsoun is requeste minly to monitor hepti firosis n portl hypertension. Fig. 9 Juvenile nephronophthisis sonogrphi pperne: norml or reue kiney size, enhne ehogeniity of the renl ortex, n reue ortiomeullry ifferentition (progressive with renl filure): 13-yer-ol oy, retinine 1.1 mg/l; 16-yer-ol oy (rother of ptient in ), retinine 2.4 mg/l; 16-yer-ol girl, en-stge renl filure; 9- yer-ol oy, en-stge renl filure (ysts re lte sign)

7 Peitr Nephrol (2010) 25: Fig. 10 Isolte renl ysts with norml renl funtion n sene of fmilir ysti kiney isese: 3-month-ol oy, isolte yst of the right kiney fmily memers norml; 15- yer-ol girl, inientl fining of n isolte yst of the left kiney; 3-yer-ol oy, isolte lrge yst (size m, pproximtely 270 ml) ;sme oy s in fter surgery (* shows former yst) * The vriility of orgn involvement in ARPKD is only prtilly unerstoo [27] ut is in prt use y the omintion of muttions in the firoystin gene [28]. Autosoml ominnt polyysti kiney isese (ADPKD). Autosoml ominnt polyysti kiney isese (ADPKD) is the most ommon form of ysti isese, with frequeny of 1 in 800 live irths n is use y muttions in the PKD1 gene on hromosome 16 or the PKD2 gene on hromosome 4 [21]. With prentl ultrsoun, inrese ehogeniity of the renl ortex with inrese ortiomeullry ifferentition is often foun, ut these finings re not speifi [25]. In these ses, fmily stuy is helpful, leit most ses in hilhoo will e exmine ue to positive fmily history. Clinil symptoms of ADPKD, s with hypertension n progressive enlrgement Fig. 11 Aquire renl ysts in en-stge renl filure: 16-yer-ol girl with Alport synrome n peritonel ilysis from the ge of 2 yers of the kineys n renl filure, re minly seen in ult ptients n re more severe in PKD1-relte ses [3]. In hilhoo, yst formtion n e etete in inresing numer n size, whih evelop in n pprently norml kiney (Fig. 7,). However, yst formtion is eveloping proess, n signifint numer of hilren with ADPKD will not show ysts efore the seon ee of life [29]. Renl filure is exlusively seen in iniviuls with severe kiney enlrgement [30]. In some ses of ADPKD, tuerous slerosis nnot e istinguishe y kiney morphology [31]. This hs een ientifie s ontiguous gene on hromosome 16 [32]. These ses hve to e ignose with itionl investigtions on extrrenl mnifesttion, suh s rin MRI, to etet ererl hmrtoms [5]. A speil sugroup of ptients with ADPKD my exhiit symptoms erly in life [33], n it n e sonogrphilly onfuse with ARPKD (Fig. 8 ). Outome in this sugroup of hilren with ADPKD seems to e etter thn in hilren with ARPKD [34]. Clssifition in ominnt or reessive ysti kiney isese therefore lwys requires fmily stuies. Extrrenl mnifesttion of ADPKD my involve mitrl vlve llooning, ererl neurysm, or yst formtion of other prenhyml orgns, suh s the liver, spleen (Fig. 8, ), or pnres [35]. As in ARPKD, the vriility of ADPKD is only prtilly unerstoo, with geneti, environmentl, n hormonl moifiers ientifie so fr [27]. In fmilies with reessive or ominnt forms of polyysti kiney isese, silings shoul e sreene, leit prentl ultrsoun is not lwys onlusive [36].

8 238 Peitr Nephrol (2010) 25: Fig. 12 Cysts in renl tumors: 9-yer-ol girl, smll Wilms tumor with ysts; 4-yer-ol oy, huge Wilms tumour with ysts of left kiney; 2-weekol oy, mixe ysti n soli vrint of mesolsti nephrom; huge Wilms tumour with multiple ysts (trnsverse setion); e, f 3-yer-ol oy, lrge kiney with multiple ysts not tumour ut ysti ysplsi on histology; e trnsverse ultrsoun, f mgneti resonne imging e f Nephronophthisis. The nephronophthisis omplex onsists of severl heterogeneous utosoml reessive iseses in whih gene prouts re linke with ili or entrosomes [37]. The sonogrphi pperne of nephronophthisis t n erly stge is nonspeifi, with norml-shpe kineys [38]. A reution in ortiomeullry ifferentition n e etete erly. Aleit nephronophthisis is ysti kiney isese, ysts re selom foun t the initil stge of isese n mostly o not pper efore en-stge renl filure is rehe (Figs. 9 ). Dignosis of nephronophthisis with sonogrphy lone is miguous, n the finl ignosis is me in omintion with the typil linil signs n extrrenl mnifesttions n is onfirme y geneti testing [39]. Meullry ysti kiney isese (MCKD). MCKDisn utosoml ominnt isorer with ysti iltion of the meullry prt of the olleting uts, whih presents with gout n hyperuriemi in some ses n usully oes not present efore ulthoo. So fr, two loi on hromosomes 1 n 16 hve een lote. For the ltter, muttions in the UMOD gene hve een esrie [40]. Ultrsoun exmintion is nonspeifi, similr to nephronophthisis. Isolte ysts. Wheres enign ysts re foun in up to 50% of the popultion oler thn 50 yers, it is rre fining in hilren [41]. Isolte ysts my e smll or lrge (Fig. 10 ). Multiple or ilterl ysts shoul lwys prompt suspiion to ADPKD n initite fmily stuies or follow-up exmintions. Aquire ysti kiney isese. Ptients on ilysis often evelop multiple ysts in their ntive kiney, even if the unerlying isese is not ysti (Fig. 11). The pthogenesis of this yst formtion is not lerly unerstoo, ut the inrese iniene of renl rinoms in quire ysti isese requires frequent n life-long monitoring of these kineys [42, 43]. Regulr follow-up n ompute tomogrphy (CT) or MRI in outful ses is vise, n

9 Peitr Nephrol (2010) 25: removl of the nonfuntioning kiney shoul e onsiere in selet ses [44]. Cysts within tumors. It is of ovious importne to emphsize tht tumors might hror some egree of ysti prenhym with vrile expression [45]. This inlues multiloulr ysti nephrom n ysti vrints of lerell srom, renl ell rinom, nephrolstom, or mesolsti nephrom n shoul lwys e ifferentite from enign lesions (Fig. 12 f). Misellneous. Cysts hve een esrie in kineys of ptients with metoli iseses suh s glutri iemi type II or rnitine plmitoyltrnsferse type II efiieny or ongenitl isorers of glyosyltion [46, 47]. Summry Ultrsoun is onvenient to use through the entire peitri ge rnge, s it oes not nee setion or preonitioning n oes not expose the hil to rition. Moern equipment llows the ignosis of nerly ll vrints of ysti kiney isese. Therefore, ultrsoun is the very first ignosti tool n will guie further ignosti workup with itionl imging stuies or geneti testing. However, knowlege of the phenotypi vriety of ysti renl iseses [48] is essentil to orrelte the sonogrphi pperne within the linil n geneti ontext. Trining in ultrsoun, or t lest knowlege of sonogrphi interprettion, is prt of the trining in peitri nephrology, n we vise every trinee to onentrte on this rewring tehnique for the enefit of their ptients. Aknowlegment The uthors thnk R. Kolitz for exellent tehnil support n C. Bergmnn for ritilly reviewing the mnusript. This work ws supporte y Forshungsunterstützungskreis Kinernephrologie e.v., Essen, Germny. Referenes 1. Lipis H, Winyr P (2007) Cysti iseses n evelopmentl kiney efets. In: Jennette JC, Olson JL, Shwrtz MM, Silv FG (es) Heptinstll s pthology of the kiney, 6th en., Lippinott Willims & Wilkins, Philelphi, pp Pohl M, Bhtngr V, Menoz SA, Nigm SK (2002) Towr n etiologil lssifition of evelopmentl isorers of the kiney n upper urinry trt. 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