Table 2.

Characteristics of kidney disease in 29 patients with Joubert syndrome and kidney involvement

Patient No./ Family No./ NIH Ciliopathy No.Sex/Age at NIH Evaluation, yrGenePrenatal UltrasonographyNIH Kidney USLaterality of Kidney DiseaseKidney Length at NIH evaluationa (Right, Left in SD)GFR, ml/min per 1.73 m2Early-Onset HypertensionbKidney HistopathologySpecific Type of Kidney Disease
3/3/97m/3.9TMEM67Prenatal US normal. Oligohydramnios at delivery, enlarged kidneys palpable at birthDiffuse moderate hyperechogenicity, loss of CMD, small cysts in cortex and medullaBilateral−3.6, −4.328 (12)c+NPARPKD-NPHP
4/4/548m/4.5TMEM67NLoss of CMDBilateral−0.1, +1.5146NPNPHP
5/5/216f/4.9TMEM6718 wk, oligohydramnios, enlarged diffusely hyperechoic cystic kidneys (affected sibling’s prenatal US showed large cystic kidneys, oligohydramnios)Several cysts in left kidney, normal echogenicity and CMDBilateral−0.2, at mean69 (12)c+NPARPKD-NPHP
8/7/271f/6.7TMEM6720 wk, enlarged diffusely hyperechoic kidneys with scattered cysts, no oligohydramniosDiffuse moderate hyperechogenicity, loss of CMD, cysts in cortex and medullaBilateral+0.6, −0.227 (8)c+Extracted right kidney: histopathologic findings consistent with “autosomal recessive polycystic kidney disease,” interstitial nephritis, and glomerulosclerosisARPKD-NPHP
9/7/272m/9.3TMEM67NTxBilateralTxTx (7)+Extracted right kidney: moderate chronic interstitial nephritis, glomerulosclerosis, tubular atrophy, and nephrocalcinosis as well as cysts, mostly accumulated at the CM junction but also scattered throughout the cortex and medullaARPKD-NPHP
10/8/557m/6.8TMEM67NDiffuse mild hyperechogenicity, loss of CMDBilateral−2.5, −1.9129NPNPHP
11/8/559m/17TMEM67NDiffuse moderate hyperechogenicity, loss of CMD, medullary cystsBilateral−0.5, −1.359+NPARPKD-NPHP
13/10/238m/8.2TMEM6719 wk, enlarged diffusely hyperechoic kidneys with loss of CMD, progressive oligohydramniosDiffuse moderate hyperechogenicity, loss of CMD, cysts in cortex and medullaBilateral+2.6, +2.338 (10)c+NAARPKD-NPHP
16/13/303f/15TMEM67NTxBilateralTxTx (13)+Extracted right kidney (51 g, 8.5×4.4×2.8 cm); extensive glomerulosclerosis, tubular atrophy, and interstitial fibrosis with severe chronic inflammation without any evidence of dysplasia. A few thin-walled tubular cysts at CM junctionARPKD-NPHP
17/14/252f/15TMEM67N (affected sibling’s prenatal US showed polycystic kidneys)Multiple cysts in cortex and medulla of right kidney, normal echogenicity and CMDBilateral−1.8, −0.983NPCystic, unable to classify
18/15/309m/17TMEM67NMultiple cysts in cortex and medulla, normal echogenicity and CMDBilateral−0.2, +1.3106NPCystic, unable to classify
40/32/575f/2.3CC2D2ANMedullary hyperecogenicityBilateral−1.8, −0.5119NPNPHP
43/35/185m/3.6CC2D2ANLoss of CMDBilateral−3.4, −2.066NPNPHP
48/39/480m/0.9CEP290NMultiple cysts in cortex and medulla of right kidney, normal echogenicity and CMDBilateral−1.7, −2.890NPCystic, unable to classify
49/40/552m/4.3CEP290NMultiple cysts in cortex and medulla of both kidneys, normal echogenicity and CMDBilateral−0.7, −1.4115NPCystic, unable to classify
50/41/373m/4.4CEP29020 wk, left multicystic dysplastic kidney; right kidney normalLeft multicystic dysplastic kidney without any normal parenchyma, several cortical cysts in right kidneyUnilateral (left)+1.9, atrophic MCDK55 (6)cNPUnilateral MCDK
52/43/412m/10CEP290NMultiple medullary cysts, normal echogenBilateral−0.9, −0.935NPNPHP
53/44/213f/13CEP29019 wk, hyperechogenic kidneys (resolved in third trimester)TxBilateralTxTx (9)NANPHP
54/45/441f/24CEP290NMultiple medullary cysts, moderate hyperechogenicityBilateral+0.3, −0.921 (24)cNPNPHP
56/47/517m/3.3AHI119 wk, left multicystic dysplastic kidney; right kidney normalLeft kidney could not be visualized, right kidney normalUnilateral (left)+1.7, atrophic MCDK108NPUnilateral MCDK
59/50/540f/18AHI1NLeft kidney with several large cysts, right kidney normal size with multiple cysts and moderate hyperechogenicityAsymmetrical (left earlier onset than right)+1.9, −0.792NPCystic, unable to classify, (asymmetric)
60/51/228f/21AHI1NLeft multicystic dysplastic kidney, right kidney normal (14.9 cm)Unilateral (left)+4.3, atrophic MCDK219NPUnilateral MCDK
72/63/372m/3.2INPP5E8 mo, oligohydramniosMultiple medullary cysts, loss of CMD, moderate hyperechogenicityBilateral+3.9, +3.7137NPARPKD-NPHP
73/64/352m/15INPP5ENTxBilateralTxTx (6)NPNPHP
79/67/438m/3.4NPHP1NMedullary cysts and echogenic foci in medullary pyramidsBilateral−1.0, +1.3117NPNPHP
80/68/396f/9TMEM216NNBilateral+0.5, −1.6452NAUnable to classify (associated with bladder dysfunction)
88/76/360m/21RPGRIP1LNDiffuse moderate hyperechogenicity, loss of CMD, cysts in medulla and cortexBilateral+2.0, +1.333NPARPKD-NPHP
89/77/474f/4.5TMEM23720 wk, enlarged (three times normal size) kidneys with markedly increased echogenicityDiffuse moderate hyperechogenicity, loss of CMD, echogenic foci and cysts in medulla and cortexBilateral+1.3, −1.852NPARPKD-NPHP
97/84/358m/9.1UnknownNModerate hyperechogenicity especially in the cortex, single cortical cyst in right kidneyBilateral−0.5. −0.534 (15)cNPCystic, unable to classify
  • NIH, National Institutes of Health; US, renal ultrasonography; m, male; CMD, corticomedullary differentiation; NP, not performed; ARPKD-NPHP, autosomal recessive polycystic kidney disease-nephronophthisis; N, normal; NPHP, nephronophthisis; f, female; Tx, transplanted (age at transplantation in years); CM, corticomedullary; NA, not available; MCDK, multicyctic dysplastic kidney.

  • a Kidney length on the basis of US measurement.

  • b Hypertension diagnosed before any decrease in GFR.

  • c These patients received renal transplantation after the NIH visit; ages at transplantation in years are indicated in parentheses.