Advanced renal failure in a Down syndrome patient due to delayed diagnosis of non-neurogenic neurogenic bladder (Hinman syndrome): A case reportIlkhan Rezaei , Fatemeh RezaeiClinical Research Development Unit - Imam Reza Educational, Therapeutic and Research Center – Kermanshah University of Medical Sciences (KUMS) – Kermanshah- IranCorresponding author :Fatemeh RezaeiClinical Development Unit – Imam Reza Educational, Thraputic and Research Center – Kermanshah University of Medical Sciences ( KUMS ) – Kermanshah – Iran19farimah98@gmail.comAbstractKey Clinical MessageNonneurogenic neurogenic bladder (NNB) which is also known as Hinman syndrome, is an uncommon medical syndrome with clinical features resembling Neurogenic bladder (But there is no sign of neurologic damage as its cause). This syndrome typically occurs in toilet-learning-age children. However, it has been reported in adults, too. It’s more common in patients with Down Syndrome (no matter how old they are) as their intellectual skills are lower than normal people. If NNB is diagnosed early, it has a good prognosis, but delayed diagnosis and treatment will lead to irreversible renal damage and even ESRD (like this case). Taking medical history of DS patients is challenging as they may not complaining of their symptoms which can be critical to diagnose early. So, clinicians should be careful in taking history of Down Syndrome patients.IntroductionNonneurogenic neurogenic bladder syndrome, which is known as Hinman syndrome, is an uncommon medical syndrome that is characterized by urinary bladder dysfunction and clinical and radiologic features which resembels a neurogenic bladder but with no signs of neurologic damage(1). This syndrome typically occurs in childhood, specially in the age of toilet learning. However, it’s been seen in some adults, too (2). Based on previous studies, incidence of this syndrome may be higher in patients with Down syndrome than the general population(3). Advanced renal failure caused by Hinman syndrome is uncommon and it’s been reported only in cases with delayed diagnosis, specially in some developing countries(4).In this article, we have introduced an adult patient with Down syndrome and progressive renal failure due to delayed diagnosis of the Hinman syndrome. This case of end-stage renal failure is one of the first such reported cases in the world in this age group(5)\RL.Case History / ExaminationA 39-year-old female was referred to ED because of abnormal laboratory data which revealed anemia, pancytopenia and increased serum BUN and Cr. she had referred to an internist, complaining of bruised right forearm and thigh.In her medical history, except for Down syndrome and bruisiness of the mentioned areas, we found out that her urination’s frequency was remarkably less than expected based on her water consumption and she urinated so much during each urination. She had no complaint of weakness, lethargy, anorexia, shortness of breath, dysuria and she had no history of urinary infections.There was a history of blood cancer in her older brother (they didn’t know which type of cancer it was), leading to his death many years ago.During physical examination, we observed ecchymosis on the front side of right forearm and thigh. Also the conjunctiva was extremely pale. Nothing else was seen.MethodsBecause of high serum urea and creatinine (Urea=129, Cr=13.6), emergency hemodialysis was planned. Investigations were also started to find the reason of increased urea and creatinine.An ultrasound of both kidneys and urinary tracts showed enlarged kidneys with severe bilateral hydronephrosis and renal cortical atrophy. The echogenicity of remaining renal parenchyma was increased and renal surface was irregular with evidences of scars in some parts. Also a distended urinary bladder with diffuse wall thickening was seen. The bladder was severely distended even after voiding.An abdominopelvic CT scan without contrast was requested and it showed severe bilateral hydronephrosis with renal pelvic dilatation.( Image 1 ) Ureteral caliber was normal.No urinary obstruction was reported. Also a little amount of free fluid was seen in the abdominal cavity and pelvis\RL. In addition, bilateral mild pleural effusion and pericardial effusion (8 mm) were seen. (Image 2)At first, there was a suspicion of an obstruction, but no urinary obstruction was seen in imaging. Based on the medical history and examination and absence of any clear obstructive causes, along with severe renal failure, diagnoses of Hinman syndrome or non-neurogenic neurogenic bladder was the most likely diagnosis.She underwent dialysis for 6 sessions during her hospitalization through right femoral shaldon. She underwent arteriovenous fistula surgery and one day before discharging, right clavicular catheter was implanted for hemodialysis till maturation of AV fistula.Due to a very low hemoglobin level (2.9 mg/dl), an iso-group cross-matched packed RBC was prescribed in ED. After about 30 minutes, she complained of back pain and shortness of breath. Transfusion was immediately stopped and patient’s blood sample and packed RBC bag were sent to laboratory for more evaluations. The laboratory reported that blood sub-groups interferences were the cause of the patient’s symptoms and her blood sub-group was C-negative / KELL-negative which was a rare sub-group blood type. After transfusion of compatible packed RBC, hemoglobin level increased gradually. Iron profile was checked and additional tests were performed. Their results were as follows: