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Neonatal Renal Failure

J. Balasubramaniam

Kidney Care centre. Tirunelveli, Tamilnadu. India


Renal failure in neonate is a vexing problem for more than one reason. Trying to get at the cause of the renal failure, one has to consider the endless list of inherited and congenital diseases, scrutinize the perinatal events, consider maternal diseases, suspect the drugs used, and the habits of the mother, besides the usual checklist of pre renal, renal and post renal causes. Not all causes are treatable. All modalities of renal replacement therapy, pose practical difficulties, when undertaken for these unfortunate neonates. More than all these the decision to undertake treatment in the first place is more social and emotional than purely medical, considering the hopeless long-term prognosis of some of the causes of neonatal renal failure. Nevertheless medical advancements and the never - give - up attitude of some, have given useful life to many a children.

Diagnosis of Renal Failure

Decreased urine output and elevated serum creatinine form the basis for the diagnosis of renal failure in the neonate as in any other situation.

Decreased urine output: Oliguria is when the urine output is < 0.5 - 1ml/kg/hr. The first urine is often not recorded when it is passed in the delivery room. Therefore, 'anuria' in the first day may be 'normal'! Likewise in Low Birth Weight (LBW) cases oliguria may be common due to pre renal causes. In some situations like aminoglycoside induced renal failure and congenital renal diseases with predominant tubular dysfunction oliguria may not be evident. Urine collection itself needs extra attention.

    a.- Suprapubic aspiration is the most reliable method, esp for detecting infection.

    b.- Diaper urine specimens are enough for pH and qualitative determinations of presence of glucose, protein, and blood.

    c.- Bag collections are adequate for specific gravity, pH, electrolytes, protein, glucose and sediments.

    d.- For quantification of the urine volume you need either bag collections or bladder catheterization. Catheterization is used if an infant has failed to pass urine by 36 – 48 hrs and is not hypovolemic.

Rising plasma creatinine: Serum creatinine values on first two days reflect maternal values. Normally creatinine level falls quickly from 0.8 mg/dl at birth to 0.5 mg/dl at 5 - 7 days and reach a stable level of 0.3 to 0.4 by 9 days. (Refer Table 1). The rate of fall in creatinine is slower in premature infants as they start with a lower GFR. Anything outside this is considered abnormal.

One has to be careful in interpreting creatinine (when estimated by Jaffe's method) in the presence of high bilirubin (which is not uncommon in the neonate). Creatinine level is spuriously low in the presence of high bilirubin. One can get around this problem by doing something called rate blanking. This compensates for the bilirubin up to about 30 mg/dl. Creatinine by immuno nephelometric method is not interfered by bilirubin or ketones. Estimation of Cystatin C, which is evolving as a better marker for estimation of renal function, would even be better.

Table 1. Normal serum creatinine values in term and preterm infants 1

Age (days

<28 wk

29 – 32 wk

33 – 36 wk

>37 wk


0.95 (1.31)

0.94 (1.40)

0.77 (1.25)

0.56 (0.96)


0.81 (1.17)

0.78 (1.14)

0.62 (1.02)

0.43 (0.65)


0.66 (0.94)

0.59 (0.97)

0.40 (0.68)

0.34 (0.54)

Causes of Renal Failure in Neonate

I. Prerenal

    A.- Reduced effective circulatory volume
      Hemorrhage, Dehydration, Hypoalbuminemia
      Sepsis, Necrotizing enterocolitis
      Congenital heart disease
    B.- Increased renal vascular resistance
      Adrenergic drugs
    C.- Hypoxia / asphyxia

II. Intrinsic or renal parenchymal
    D.- Sustained pre renal causes leading to acute tubular necrosis
    E.- Congenital anomalies (Refer Tables 4, 5, 6)
      Agenesis, Hypoplasia / dysplasia
      Polycystic kidney disease

    F.- Thromboembolic disease
      Bilateral renal vein / renal arterial thrombosis

    G.- Nephrotoxins
      Aminoglycosides, Radiographic contrast media, Urate nephropathy

    H.- Maternal ingestion of drugs

III. Obstructive

    I.- Urethral obstruction
      Posterior urethral valves, Stricture

    J.- Ureterocele, Ureteropelvic / ureterovesical obstruction
    K.- Extrinsic tumors
    L.- Neurogenic bladder
    M.- Megacystis or megaureter syndrome

Birth asphyxia and neonatal sepsis are still common; more so in developing countries where obstetric and newborn resuscitation facilities are not universally available yet. Combination of dehydration, sepsis, shock, and nephrotoxic drugs is not an uncommon situation in neonatal ICU. These lead to high incidences of neonatal renal failure. The inciting insults can sometimes be so subtle and occult that the cause of renal failure may seem unobvious. They are often reversible if identified and managed in time.

Obstructive lesions should ideally be identified by prenatal ultrasonography. Late diagnosis and intervention reduce the chances of reversibility and the ultimate prognosis. In prenatally suspected obstruction, ultrasonography and voiding cystourethrography should be done ideally on the first day of life itself.

Reno vascular thrombosis leading to renal failure and hypertension is becoming commoner following neonatal ICU treatment and frequent umbilical artery catheterization.

Maternal drug intake is an important factor not to be underrated. Drug intake during pregnancy is generally detested by many for the fear of fetal malformations. Physicians are generally careful in the first two trimesters of pregnancy but tend to take risks in the last trimester. One has to keep in mind that though the full set of (1 million) glomeruli are achieved by 34 weeks of pregnancy, glomerular and tubular maturation goes on up to 2 months into post natal life. During renal development, immunoreactive COX-2 is first observed in mid-gestation embryonic stages, notably in cells undergoing induction and/or morphogenesis and for the duration of nephrogenesis (through postnatal wk 2). In the postnatal kidney, COX-2 expression is relatively low at birth, increases in the first two postnatal weeks, and gradually declines to low levels in normal adult rats. This expression pattern of COX-2 in the developing kidney is of interest because of the evidence that COX metabolites play important functional and developmental roles in the fetal kidney.11

So drugs like COX 2 inhibitors used in the last part of pregnancy can adversely affect the maturation of tubules and cause renal failure which can be irreversible. We have come across three unfortunate instances of neonatal chronic renal failure caused by maternal ingestion of nimesulide.4,5

Use of ACEIs during the second and third trimesters of pregnancy has been associated with a pattern of defects known as ACEI fetopathy. The predominant feature of the fetopathy is renal tubular dysplasia. Other associated conditions include hypocalvaria, intrauterine growth retardation (IUGR), and patent ductus arteriosus (PDA). These features may be related to fetal hypotension secondary to ACEI-induced decreases in fetal angiotensin or increased bradykinin.13 Although no adverse fetal effects have been linked to first trimester use of ACEIs, there has been no systematic evaluation of births to women with such exposures. Instances of neonatal renal failure caused by maternal ingestion of ACEI and ARB are not infrequent.6 Other rare causes of neonatal anuria and renal failure include hyperuricemia and urate nephropathy.12

Notwithstanding the above long list, only few etiologies are common. Here are the causes of the 36 cases of neonatal renal failure seen in our unit during 1 year.

Asphyxia neonatorum 5
Meconium aspiration / respiratory distress 4
Neonatal sepsis 17
Maternal ingestion of drugs – Nimesulide 2
Drugs – Aminoglycoside 2
Obstruction 2
Congenital Heart disease 2

Only three of them required dialysis. Peritoneal dialysis was the chosen mode of renal replacement therapy. There were 4 deaths and the causes of death were non renal in three of them.

Clinical Assessment

  • Prenatal History
    • Maternal illness
    • Maternal use of drugs - NSAIDS including COX 2 inhibitors, ACEI,ARB
    • Oligohydraminos may indicate decreased fetal urine production. It is often associated with renal agenesis, dysplasia, polycystic disease, or severe urinary obstruction. Raised serum and amniotic fluid alpha – fetoprotein are associated with congenital nephrotic syndrome.
  • Family history of renal anomalies, polycystic disease, or renal tubular disorders.
  • Delivery history:
    • Fetal distress
    • Perinatal asphyxia
    • Shock due to fluid loss

Physical examination: Look for abdominal masses. These are often renal or related to genito urinary system. Look for other congenital anomalies which are often associated with renal abnormalities. They are low set ears, ambiguous genitalia, anal atresia, abdominal wall defect, vertebral anomalies, meningomyelocele, pneumothorax, hemihypertrophy, persistant urachus, hypospadiasis, and cryptorchidism. (Refer Tables 4-6).

Early in the clinical examination one has to differentiate between retention of urine from anuria due to renal failure.

Differentiate Incipient from Established Renal Failure
Since treatment differs greatly, the distinction between incipient and established renal failure is important. The differentiation can be done by

    1. Urea increased out of proportion to increase in creatinine - suggests prerenal failure.
    2. Renal failure indices (serum creatinine, Fractional Excretion of Sodium (FENa) and urine osmolality). Refer Table 2.
    3. Cautious fluid challenge, if no signs of fluid overload or heart failure are present. Normal saline 10-20 ml/kg is infused over 1-2 h. If urine is produced, it is probable prerenal renal failure. If no urine or little urine is produced in 1 h post infusion, IV furosemide 1 mg/kg is given. If still no or only little urine is produced, it is probable parenchymal renal failure.

Table 2.

Renal failure indices in the oliguric neonate2


Prerenal failure

Intrinsic renal failure

Urine sodium (mEq/L)



Urine / plasma creatinine

29.2 ± 1.6

9.7 ± 3.6


0.9 ± 0.6

upto 3% in preterm

4.3 ± 2.2

Interpretation of FENa

When interpreting FENa, one has to keep in mind that the Na reabsorption capacity of premature kidney is limited, resulting in high FENa ( > 3%) even in prerenal states unlike in adults where it is < 1%. In premature neonates with oliguria, if FENa is <3%, we may assume that the renal failure is incipient and that there is enough residual renal function to retain salt. The usefulness of FENa is uncertain if a diuretic has been already given.

When interpreting the urinary and blood biochemistry of the neonates one has to take note that there are differences between preterm, term,know how they differ from that of older children and adults. Refer Table 3.

Table 3.

Normal urinary and renal values in term and preterm infants

Preterm infants <34 wks

Term infants at birth

Term infants 2 wks

Term infants 8 wks

GFR (ml/min/1.73m2)





FENa (%) (oliguric patient)

>1% up to 3%




Bicarbonate threshold (mEq/L)





TRP (%)




Protein excretion (mg/m2/24h)

(mean ± 1 SD)

60 ± 96

31 ± 44


Maximal concentration ability (mOsmol/L)





Maximal diluting ability






Specific gravity

1.002 – 1.015

1.002 – 1.020

1.002 – 1.025





5.0 – 8.0

4.5 – 8.0

4.5 – 8.0

4.5 – 8.0


Neg to ++

Neg to +




Neg t0 ++














Differentiate acute from chronic renal failure:

Clinical setting as shown by prenatal, natal and post natal events generally would tell about the reversibility of the renal failure. Pointers to underlying irreversible renal problem:

  1. Family history of congenital/hereditary renal disease
  2. Prenatal USG showing oligohydraminos and significant renal anomalies
  3. Maternal intake of drugs like NSAIDs
  4. Post natal USG showing bilateral renal anomalies
  5. Presence of known external markers and other congenital organ anomalies.

Unless proved otherwise it is better to treat one as reversible renal failure when one is not sure.

Role of Radiology
is the most useful study. It is noninvasive, can be performed bed-side, and readily detects structural anomalies of the kidneys (e.g., polycystic disease, agenesis), collecting system or vascular supply and renal artery / vein thrombosis.

  • The length and echogenicity of the kidneys are to be noted first. The length of the kidneys in millimeters is approximately the gestational age in weeks. The cortical echogenicity equals that of the liver or spleen unlike in older children where we see hypoechogenicity.
  • Hydronephrosis is easily recognized. Bilateral hydronephrosis is more worrisome than unilateral hydronephrosis. When Posterior urethral valve (PUV) is the cause, it is usually associated with trabaculated and thickened bladder wall. Unilateral and mild hydronephrosis may be missed in the first day because of physiologic dehydration.
  • Multicystic dysplastic kidneys (MCDK), unilateral and bilateral are easily recognized.

If functional studies are required, scintigraphic radionuclide studies are used. It is useful in showing the position and relative function of the kidneys. Isotopes such as technetium-99m-diethylene triamine pentacetic acid (DTPA) or Mercaptoacetyltriglycine (MAG3) are good for assessing renal blood flow and GFR. Technetium-99m-dimercaptosuccinic acid (DMSA), an isotope which binds to the tubules, is helpful in assessing acute pyelonephritis and renal scarring from renal artery emboli, and to quantify renal cortex in neonates with renal dysplasia and hypoplasia

Voiding cystourethrography (VCU) is to be performed at the earliest (preferably in the first day) in case of bilateral hydronephrosis. This would identify PUV and vesicoureteral reflex.

There is no role for intravenous pyelography in the newborn.

Renal Biopsy

Renal biopsy is generally not required as the cause of renal failure is often evident clinically. In situations where it is especially required to ascertain the reversibility of the renal failure, renal biopsy is undertaken. Ideally it is done by open method. But we have performed USG guided closed percutaneous needle biopsies successfully. Figs 1 and 2.

Figs. 1 and 2. Renal biopsy of neonatal renal failure caused by maternal ingestion of Nimesulide.
Note the fetal glomerulus with the coronal arrangement of the nuclei, and the immature tubules which are diagnostic of maturation arrest4,5


While managing neonates one has to keep in mind the fact that, at birth, renal homeostasis is limited in healthy preterm infants (e.g., the maximum ability to concentrate urine is 700 to 800 mOsm/L). In extreme-low-birth-weight (ELBW) infants, renal function cannot be described as "homeostatic," and fluid and electrolyte balance is precarious. Problems are greatest in infants <1250 g BW. They include the following:

  • Limited concentrating ability with the maximum specific gravity of 1.021 to 1.025.

  • Decreased ability to appropriately excrete or to retain water and electrolytes

  • Decreased renal threshold for glucose

  • Limited ability to excrete large loads of potassium.

  • Low serum bicarbonate threshold in the proximal tubule (14 – 16 mEq/L in the premature, 18 – 21 mEq/L in the full-term). In addition limited ability to produce ammonia in the distal tubule and to excrete titratable acid load.

  • Poor renal excretion of some medications that may lead to toxic levels if doses are not adjusted appropriately.

  • Potential deficiencies are exacerbated by excess skin loss of free water (especially in infants <750 g BW) and by pathologic conditions affecting blood pressure (i.e., shock).

    For these reasons, fluid and electrolyte balance requires precise control. To individualize fluid and electrolyte therapy, frequent monitoring is needed. Monitoring involves:

  1. Weighing the neonate every 8 hours.
  2. Hourly urine output measurement.
  3. Measure abdominal girth and look for fluid excess.
  4. Rewriting fluid advice at least every 8 hours.

Fluid challenge is undertaken in case of suspected hypovolemia. We give 10 to 20 ml/kg over 1 hour if there is no evidence of cardiac failure. Diuretics are used (1 – 2 mg/kg) in the event of fluid overload. Fluid intake is based on the neonate’s hydration status. It should match the insensible loss and ongoing losses. Insensible loss is 30 ml/kg/day in full term neonates and 50 – 70 ml/kg/day in preterms.

The composition of fluid infusion should consider three main goals:

  1. Maintain euglycemia. Neonates are prone for hypoglycemia. See that the fluid has 10 – 20% dextrose.

  2. Maintain isonatremia. Neonates and especially the pretems are prone for hyponatremia. Add appropriate volumes of hypertonic saline or sodium bicarbonate to the dextrose solutions.

  3. Avoid hyperkalemia. Do not add potassium until urine output is adequate.

We have not found low dose dopamine useful. We avoid IV mannitol for the fear of fluid overload and pulmonary edema. We find xanthine derivative (aminophylline), an anti adenosine agent, extremely useful in renal dysfunction associated with hypovolemia, septicemia, and severe jaundice. There is good scientific basis for its use. Many an incipient renal failure has been reversed successfully in our unit. We use 5 mg/kg loading dose given over 2 hrs which is followed by 0.3mg/kg /hr infusion. Infusion is discontinued if there is no response after 48 hours8. In spite of many clinical reports and the work by David Moskowitz, we feel that the role of aminophylline in acute renal failure appears to be underrated.

Treat hyperkalemia, if found, appropriately.

Nutrition management: Increase calorie intake to 25 kcal/kg; protein restriction to 0.5 gm/kg/day. Ensure phosphate restriction and calcium supplementation

Avoid nephrotoxic drugs and adjust dosage of essential drugs.


When the clinical status of the neonate deteriorates in spite of all above measures, dialysis is to be considered. Particularly, life threatening hyperkalemia > 8.0 mEq/L, severe acidosis and continuing fluid overload would call for urgent dialysis. Raising creatinine alone is not an indication for dialysis.

Before embarking on dialysis ethical factors must be considered. Consider the following issues:

1. Is the renal defect reversible?

2. How long is dialysis likely to be required?

3. Other medical problems and their reversibility.

4. Parental views.

Generally one need not hesitate to undertake dialysis in a neonate weighing > 1.5 kg who is likely to survive without severe neurological deficits and whose renal disease is reversible.

Peritoneal dialysis (PD)

Peritoneal dialysis is the more practical mode of renal replacement therapy in neonates. Generally 20 – 30 ml/kg body weight of dialysate is used for the PD cycles and continued for 24 to 48 hours. Short periods of dialysis using stiff PD catheters can tide over most situations of acute renal failures. Intermittent PD may be restarted after 2 -3 days if renal failure persists. We have undertaken extended periods of PD (upto 7 days ) using the same catheter without complications. Flexible Tenchoff CAPD catheters may be implanted when the duration of dialysis is expected to be longer. PD using small volume exchanges is better tolerated by critically ill neonates.7

Fig. 3. A neonate undergoing Peritoneal dialysis.

There are instances of dangerous hyperkalemias and renal failures in sick neonates helped by exchange transfusions given in our unit9. It is worthwhile to keep this option in mind in hopeless situations.

Hemodialysis is generally difficult in neonates and it is to be undertaken only in centres which have experience. However the ethical factors mentioned above are to be considered even more rigorously before embarking on hemodialysis.

It is true that, presently the picture looks gloomy for the majority of neonates with renal failure. New knowledge gained regarding renal and other organ development is shedding more light on the genesis of not only congenital and hereditary diseases but also on late adult onset diseases. These new understandings will definitely have a positive bearing on the many diseases which are presently believed to untreatable and hopeless. ‘Thrifty gene’ hypothesis and Barker’s hypothesis reveal that genetic factors may interact with altered intrauterine growth in determining the risk of cardiovascular and renal diseases Low birth weight (LBW), which reflects adverse effects on development in utero, contribute to many adult onset diseases including ESRD14 genetic. This could explain the rise in renal disease in high-risk population. The association is mediated through impaired nephrogenesis and reduction in nephron population caused by intrauterine malnutrition.

The renal disease epidemic in developing countries may partly be the legacy of greatly improved survival of LBW babies over the last four decades. Disease rates should eventually plateau as birth weights continue to improve, if postnatal risk factors can also be contained. Our recent learning of role of COX 2 in renal development, presence of ACE gene, gene location of various cystic and other diseases, mechanisms of cyst development etc are closing the gaps in our understanding of many renal diseases. All these are bound to be translated into prevention, early diagnosis, better treatment options and thereby better prognosis for the neonates with renal failure in the near future.


Dr. S. Raju, Dr. Mohamed Thamby, Dr. M. Nagarajan, Dr. A. Subramanian, Dr. M. Nambiyappan, and Dr. V.T. Rajesh, Pediatricians, Tirunelveli, were gracious enough to allow me to study their patients.


  1. Rudd, P.T, Hughes, E.A. et al. Reference ranges for plasma creatinine during the first month of life. Arch. Dis. Child. 58:212, 1983
  2. Mathew O.P. et al. Neonatal renal failure: Usefulness of diagnostic indices. Pediatrics 65:57,1980. (Modified)
  3. Bailie, M.D.(ed). Renal function and disease. Clin.Perinatol. 19(1), 1992
  4. Balasubramaniam J: Nimesulide and neonatal renal failure (Comment). Lancet 355:575, 2000
  5. Balasubramaniam J: Selective cox -2 inhibitors and nephrotoxicity. American Journal of Kidney Diseases, Vol 36, No 3 (September), 2000: pp 675-676
  6. Pietrement C, Malot L, et al. Neonatal Acute Renal Failure Secondary to Maternal Exposure to Telmisartan, Angiotensin II Receptor Antagonist. J Perinatol. 2003 May;23(3):254-5.

  7. Golej J, Kitzmueller E, et al. Low-volume peritoneal dialysis in 116 neonatal and paediatric critical care patients. Eur J Pediatr. 2002 Jul;161(7):385-9. Epub 2002 May 09.
  8. David Moskowitz, Personal communication.
  9. Rajesh, V.T. Personal communication
  10. Manual of neonatal care / Joint program in Neonatology, Harvard Medical school, et al; Edited by John P. Cloherty and Ann R.Stark – 4th edition, 1997.
  11. Balasubramaniam J: COX 2 inhibitors and nephrotoxicity. 2nd International Congress of Nephrology in Internet, 2001. http://www.uninet.edu/cin2001/conf/bala/bala.html.
  12. Arvind Shenoi and Kishore D. Phadke: Uric Acid Nephropathy as an Unusual Cause of Acute Renal Failure in a Neonate. Indian Pediatrics : Mar 2000;37:322 – 324
  13. Barr M Jr. : Teratogen update: angiotensin-converting enzyme inhibitors. Teratology 1994 Dec;50(6):399-409
  14. Lackland DT, Bendall HE, Osmond C, Egan BM, Barker DJ.: Low birth weights contribute to high rates of early-onset chronic renal failure in the Southeastern United States. Arch Intern Med. 2000 May 22;160(10):1472-6.


Table 4.

Congenital abnormalities with renal components

Dysmorphic disorders, sequences, and associations

General features

Renal abnormalities

Oligohydramnios sequence (Potter syndrome)

Altered facies, pulmonary hypoplasia, abnormal limb and head position

Renal agenesis, severe bilateral obstruction, severe bilateral dysplasia, auto-somal recessive polycystic kidney disease.

VATER and VACTERL syndrome

Vertebral anomalies, anal atresia, tracheoesophageal fistula, radial dysplasia, cardiac and limb defects

Renal agenesis, renal dysplasia, renal ectopia

MURCS association and Rokitansky sequence

Failure of paramesonephric ducts, vaginal and uterus hypoplasia / atresia, cervicothoracic somite dysplasia

Renal hypoplasia/agenesis, renal ectopia, double uterers

Prune belly

Hypoplasia of abdominal muscle, cryptorchidism

Megaureters, hydroneph-rosis, dysplastic kidneys, atonic bladder.

Spina bifida


Neurogenic bladder, vesicoureteral reflux, hydronephrosis, double ureter, horseshoe kidney

Caudal dysplasia sequence (caudal regression syndrome)

Sacral (and lumbar) hypoplasia, disruption of the distal spinal cord

Neurogenic bladder, vesicoureteral reflux, hydronephrosis, renal agenesis

Anal atresia

(high imperforate anus)

Rectovaginal, rectovesical, or rectourethral fistula tethered to the spinal cord

Renal agenesis, renal dysplasia.



Wilms’ tumor, hypospadias


Aniridia, cryptorchidism

Wilms’ tumor

Drash syndrome

Ambiguous genitalia

Mesangial sclerosis, Wilms’ tumor

Small deformed or low-set ears


Renal agenesis / dysplasia



Table 5.

Chromosomal abnormalities

General features

Renal abnormalities

Trisomy 21

(Down syndrome)

Abnormal facies, brachy-cephaly, congenital heart disease

Cystic dysplastic kidney and other renal abnormalities

Xo syndrome

(Turner syndrome)

Small stature, congenital heart disease, amenorrhea

Horseshoe kidney, duplications and malrotations of the urinary collecting system.

Trisomy 13

(Patau syndrome)

Abnormal facies, cleft lip and palate, congenital heart disease

Cystic dysplastic kidneys and other renal anomalies

Trisomy 18

(Edwards syndrome)

Abnormal facies, abnormal ears, overlapping digits, congenital heart disease

Cystic dysplastic kidneys, horseshoe kidney, or duplication

XXY, XXX syndrome

(Triploidy syndrome)

Abnormal facies, cardiac defects, hypospadias and cryptorchidism in male, syndactyly

Various renal abnormalities

Partial trisomy 10q

Abnormal facies, micro-cephaly, limb and cardiac abnormalities

Various renal abnormalities.


Table 6.

Hereditary disorders

General features

Renal abnormalities

Autosomal recessive


Cerebrohepatorenal syndrome

(Zellweger syndrome)

Hepatomegaly, glaucoma, brain anomalies,


Cortical renal cysts

Jeune syndrome (thoracic asphyxiating dystrophy)

Small thoracic cage, short ribs, abnormal costochondral junctions, pulmonary hypoplasia

Cystic tubular dysplasia, glomerulos-clerosis, hydronephro-sis, horseshoe kidneys.

Meckel-Gruber syndrome (dysencephalia splanchnocystica)

Encephalocele, microcephaly, polydactyly, cryptorchidism, cardiac anomalies, liver disease

Polycystic / dysplastic kidneys.

Johanson – Blizzard syndrome

Hypoplastic alae nasi, hypothyroidism, deafness, imperforate anus, cryptorchidism

Hydronephrosis caliectasis

Schinzel – Giedon syndrome

Short limbs, abnormal facies, bone abnormalities, hypospadias

Hydronephrosis megaureter

Short rib-polydactyly syndrome

Short horizontal ribs, pulmonary hypoplasia, polysyndactyly, bone and cardiac defects, ambiguous genitalia

Glomerular and tubular cysts

Bardet – Biedl syndrome

Obesity, retinal pigmentation, polydactyly

Interstitial nephritis

Autosomal dominant


Tuberous sclerosis

Fibrous-angiomatous lesions, hypopigmented macules, intracranial calcifications, seizures, bone lesions.

Polycystic kidneys, renal angiomyolipomata

Melnick – Fraser syndrome (branchio-otorenal [BOR] syndrome)

Preauricular pits, branchial clefts, deafness

Renal dysplasia, duplicated ureters

Nail-patella syndrome (hereditary osteoonycho-dysplasia)

Hypoplastic nails, hypoplastic or absent patella, other bone anomalies

Proteinuria, nephrotic syndrome.

Townes syndrome

Thumb, auricular and anal anomalies

Various renal abnormalities



Oculocerebrorenal syndrome (Lowe’s syndrome)

Cataracts, rickets, mental retardation

Fanconi syndrome

Oral-facial-digital (OFD) syndrome, type I

Oral clefts, hypoplastic alae nasi, digital asymmetry

(X-linked, lethal in male)

Renal microcysts